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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: 3-184342221-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184342221&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184342221,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_144635.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "NM_144635.5",
"protein_id": "NP_653236.3",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 366,
"cds_start": 481,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383847.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144635.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000383847.7",
"protein_id": "ENSP00000373360.2",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 366,
"cds_start": 481,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144635.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383847.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "ENST00000340957.9",
"protein_id": "ENSP00000340974.5",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340957.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000855138.1",
"protein_id": "ENSP00000525197.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 366,
"cds_start": 481,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855138.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000639617.1",
"protein_id": "ENSP00000491845.1",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 359,
"cds_start": 481,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639617.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Gly130Ser",
"transcript": "ENST00000310585.4",
"protein_id": "ENSP00000310135.4",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 335,
"cds_start": 388,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310585.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "NM_001171093.2",
"protein_id": "NP_001164564.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171093.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "NM_001366133.1",
"protein_id": "NP_001353062.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366133.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "NM_001366134.1",
"protein_id": "NP_001353063.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366134.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "ENST00000450976.5",
"protein_id": "ENSP00000388551.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450976.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "ENST00000453072.5",
"protein_id": "ENSP00000390588.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453072.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000418281.5",
"protein_id": "ENSP00000414050.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 251,
"cds_start": 112,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418281.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "ENST00000418768.5",
"protein_id": "ENSP00000414913.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 230,
"cds_start": 226,
"cds_end": null,
"cds_length": 695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418768.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "ENST00000433578.5",
"protein_id": "ENSP00000399875.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 122,
"cds_start": 226,
"cds_end": null,
"cds_length": 370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433578.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "XM_047447437.1",
"protein_id": "XP_047303393.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 366,
"cds_start": 481,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447437.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "XM_047447438.1",
"protein_id": "XP_047303394.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 294,
"cds_start": 265,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447438.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "XM_005247114.4",
"protein_id": "XP_005247171.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 281,
"cds_start": 226,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247114.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"hgvs_c": "n.100G>A",
"hgvs_p": null,
"transcript": "ENST00000487702.1",
"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": "ENST00000487702.1"
}
],
"gene_symbol": "FAM131A",
"gene_hgnc_id": 28308,
"dbsnp": "rs140044854",
"frequency_reference_population": 0.0000049699565,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.000004803,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.649061381816864,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.08,
"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_144635.5",
"gene_symbol": "FAM131A",
"hgnc_id": 28308,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser"
}
],
"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
}