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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: 19-48966709-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48966709&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48966709,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000146.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Glu168Gln",
"transcript": "NM_000146.4",
"protein_id": "NP_000137.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 175,
"cds_start": 502,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331825.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000146.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Glu168Gln",
"transcript": "ENST00000331825.11",
"protein_id": "ENSP00000366525.2",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 175,
"cds_start": 502,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000146.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331825.11"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Glu173Gln",
"transcript": "ENST00000853542.1",
"protein_id": "ENSP00000523601.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 180,
"cds_start": 517,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853542.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.499G>C",
"hgvs_p": "p.Glu167Gln",
"transcript": "ENST00000853538.1",
"protein_id": "ENSP00000523597.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 174,
"cds_start": 499,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853538.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Glu153Gln",
"transcript": "ENST00000853540.1",
"protein_id": "ENSP00000523599.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 160,
"cds_start": 457,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853540.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.439G>C",
"hgvs_p": "p.Glu147Gln",
"transcript": "ENST00000925220.1",
"protein_id": "ENSP00000595279.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 154,
"cds_start": 439,
"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": "ENST00000925220.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Glu145Gln",
"transcript": "ENST00000853543.1",
"protein_id": "ENSP00000523602.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 152,
"cds_start": 433,
"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": "ENST00000853543.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.376G>C",
"hgvs_p": "p.Glu126Gln",
"transcript": "ENST00000853541.1",
"protein_id": "ENSP00000523600.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 133,
"cds_start": 376,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853541.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Glu124Gln",
"transcript": "ENST00000925222.1",
"protein_id": "ENSP00000595281.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 370,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925222.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Glu119Gln",
"transcript": "ENST00000853539.1",
"protein_id": "ENSP00000523598.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 126,
"cds_start": 355,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853539.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Glu74Gln",
"transcript": "ENST00000925221.1",
"protein_id": "ENSP00000595280.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 81,
"cds_start": 220,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"hgvs_c": "c.*198G>C",
"hgvs_p": null,
"transcript": "ENST00000718269.1",
"protein_id": "ENSP00000520709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718269.1"
}
],
"gene_symbol": "FTL",
"gene_hgnc_id": 3999,
"dbsnp": "rs768204975",
"frequency_reference_population": 0.0000013687137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136871,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48942896723747253,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.463,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.471,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.379,
"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": 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_000146.4",
"gene_symbol": "FTL",
"hgnc_id": 3999,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Glu168Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}