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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: 8-124017699-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124017699&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124017699,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001039112.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.1994C>G",
"hgvs_p": "p.Thr665Arg",
"transcript": "NM_001039112.2",
"protein_id": "NP_001034201.2",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 1857,
"cds_start": 1994,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000522917.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039112.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.1994C>G",
"hgvs_p": "p.Thr665Arg",
"transcript": "ENST00000522917.5",
"protein_id": "ENSP00000428280.1",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 1857,
"cds_start": 1994,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039112.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522917.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.2063C>G",
"hgvs_p": "p.Thr688Arg",
"transcript": "XM_011517231.3",
"protein_id": "XP_011515533.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1880,
"cds_start": 2063,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517231.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.2024C>G",
"hgvs_p": "p.Thr675Arg",
"transcript": "XM_006716618.4",
"protein_id": "XP_006716681.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 1867,
"cds_start": 2024,
"cds_end": null,
"cds_length": 5604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716618.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.1994C>G",
"hgvs_p": "p.Thr665Arg",
"transcript": "XM_011517232.4",
"protein_id": "XP_011515534.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 1857,
"cds_start": 1994,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517232.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.1994C>G",
"hgvs_p": "p.Thr665Arg",
"transcript": "XM_011517233.4",
"protein_id": "XP_011515535.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 1857,
"cds_start": 1994,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517233.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "c.2063C>G",
"hgvs_p": "p.Thr688Arg",
"transcript": "XM_011517235.4",
"protein_id": "XP_011515537.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1448,
"cds_start": 2063,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517235.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"hgvs_c": "n.2158C>G",
"hgvs_p": null,
"transcript": "XR_928347.3",
"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": "XR_928347.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FER1L6-AS1",
"gene_hgnc_id": 26652,
"hgvs_c": "n.158-1657G>C",
"hgvs_p": null,
"transcript": "ENST00000518567.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000518567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FER1L6-AS1",
"gene_hgnc_id": 26652,
"hgvs_c": "n.158-1657G>C",
"hgvs_p": null,
"transcript": "NR_040044.1",
"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_040044.1"
}
],
"gene_symbol": "FER1L6",
"gene_hgnc_id": 28065,
"dbsnp": "rs367553708",
"frequency_reference_population": 0.000008057818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000615946,
"gnomad_genomes_af": 0.0000262857,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19428777694702148,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.446,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1624,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.019,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001039112.2",
"gene_symbol": "FER1L6",
"hgnc_id": 28065,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1994C>G",
"hgvs_p": "p.Thr665Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000518567.1",
"gene_symbol": "FER1L6-AS1",
"hgnc_id": 26652,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.158-1657G>C",
"hgvs_p": null
}
],
"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
}