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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: 1-157746873-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=157746873&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 157746873,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_030764.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1486A>C",
"hgvs_p": "p.Lys496Gln",
"transcript": "NM_030764.4",
"protein_id": "NP_110391.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 508,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361516.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030764.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1486A>C",
"hgvs_p": "p.Lys496Gln",
"transcript": "ENST00000361516.8",
"protein_id": "ENSP00000355157.3",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 508,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030764.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361516.8"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Lys190Gln",
"transcript": "ENST00000368181.4",
"protein_id": "ENSP00000357163.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 202,
"cds_start": 568,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368181.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "n.3404A>C",
"hgvs_p": null,
"transcript": "ENST00000368178.3",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000368178.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1288A>C",
"hgvs_p": "p.Lys430Gln",
"transcript": "ENST00000957326.1",
"protein_id": "ENSP00000627385.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 442,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957326.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1201A>C",
"hgvs_p": "p.Lys401Gln",
"transcript": "ENST00000864375.1",
"protein_id": "ENSP00000534434.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864375.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1486A>C",
"hgvs_p": "p.Lys496Gln",
"transcript": "XM_011509974.4",
"protein_id": "XP_011508276.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 513,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509974.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1420A>C",
"hgvs_p": "p.Lys474Gln",
"transcript": "XM_011509975.4",
"protein_id": "XP_011508277.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 491,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509975.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1420A>C",
"hgvs_p": "p.Lys474Gln",
"transcript": "XM_011509976.3",
"protein_id": "XP_011508278.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 486,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509976.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Lys403Gln",
"transcript": "XM_047430270.1",
"protein_id": "XP_047286226.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 415,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430270.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1201A>C",
"hgvs_p": "p.Lys401Gln",
"transcript": "XM_047430273.1",
"protein_id": "XP_047286229.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 413,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430273.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Lys308Gln",
"transcript": "XM_047430275.1",
"protein_id": "XP_047286231.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 320,
"cds_start": 922,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430275.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1308-99A>C",
"hgvs_p": null,
"transcript": "NM_001159488.2",
"protein_id": "NP_001152960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159488.2"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1460-99A>C",
"hgvs_p": null,
"transcript": "XM_017002316.2",
"protein_id": "XP_016857805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": null,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002316.2"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1262-99A>C",
"hgvs_p": null,
"transcript": "XM_017002317.2",
"protein_id": "XP_016857806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002317.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1181-99A>C",
"hgvs_p": null,
"transcript": "XM_017002318.2",
"protein_id": "XP_016857807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002318.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "c.1175-99A>C",
"hgvs_p": null,
"transcript": "XM_017002319.2",
"protein_id": "XP_016857808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002319.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"hgvs_c": "n.627A>C",
"hgvs_p": null,
"transcript": "NR_125358.2",
"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_125358.2"
}
],
"gene_symbol": "FCRL2",
"gene_hgnc_id": 14875,
"dbsnp": null,
"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": 0.06696778535842896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.168,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000117281041014764,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_030764.4",
"gene_symbol": "FCRL2",
"hgnc_id": 14875,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1486A>C",
"hgvs_p": "p.Lys496Gln"
}
],
"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
}