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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: 22-38586181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38586181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38586181,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001013647.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Gly553Arg",
"transcript": "NM_001013647.2",
"protein_id": "NP_001013669.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 570,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535113.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013647.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Gly553Arg",
"transcript": "ENST00000535113.7",
"protein_id": "ENSP00000445093.1",
"transcript_support_level": 5,
"aa_start": 553,
"aa_end": null,
"aa_length": 570,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013647.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535113.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Arg577Arg",
"transcript": "ENST00000355830.11",
"protein_id": "ENSP00000348086.7",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 651,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355830.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Arg577Arg",
"transcript": "ENST00000540952.6",
"protein_id": "ENSP00000493504.1",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 622,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540952.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Gly460Arg",
"transcript": "NM_001291030.2",
"protein_id": "NP_001277959.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 477,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291030.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Gly365Arg",
"transcript": "NM_001384271.1",
"protein_id": "NP_001371200.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 382,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384271.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Arg488Arg",
"transcript": "NM_001384270.1",
"protein_id": "NP_001371199.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 533,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384270.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Arg581Arg",
"transcript": "XM_006724291.3",
"protein_id": "XP_006724354.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 688,
"cds_start": 1743,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724291.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Arg581Arg",
"transcript": "XM_011530308.4",
"protein_id": "XP_011528610.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 688,
"cds_start": 1743,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530308.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Arg577Arg",
"transcript": "XM_006724292.3",
"protein_id": "XP_006724355.2",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 684,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724292.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Arg581Arg",
"transcript": "XM_011530309.3",
"protein_id": "XP_011528611.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 655,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530309.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Arg546Arg",
"transcript": "XM_011530310.2",
"protein_id": "XP_011528612.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 653,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530310.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1626G>A",
"hgvs_p": "p.Arg542Arg",
"transcript": "XM_047441456.1",
"protein_id": "XP_047297412.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 649,
"cds_start": 1626,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441456.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1620G>A",
"hgvs_p": "p.Arg540Arg",
"transcript": "XM_011530311.2",
"protein_id": "XP_011528613.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 647,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530311.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Arg488Arg",
"transcript": "XM_011530312.3",
"protein_id": "XP_011528614.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 595,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530312.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Arg488Arg",
"transcript": "XM_011530313.3",
"protein_id": "XP_011528615.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 595,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530313.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Arg488Arg",
"transcript": "XM_047441457.1",
"protein_id": "XP_047297413.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 595,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441457.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Arg484Arg",
"transcript": "XM_047441458.1",
"protein_id": "XP_047297414.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 591,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441458.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Arg488Arg",
"transcript": "XM_047441459.1",
"protein_id": "XP_047297415.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 533,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "n.2036G>A",
"hgvs_p": null,
"transcript": "XR_937892.2",
"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": "XR_937892.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "n.-36G>A",
"hgvs_p": null,
"transcript": "ENST00000543828.1",
"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": "ENST00000543828.1"
}
],
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"dbsnp": "rs761584517",
"frequency_reference_population": 0.000009667502,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000857502,
"gnomad_genomes_af": 0.000019714,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010252624750137329,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.1448,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.118,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001013647.2",
"gene_symbol": "FAM227A",
"hgnc_id": 44197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Gly553Arg"
}
],
"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
}