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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: 12-8222019-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8222019&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM90A1",
"hgnc_id": 25526,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018088.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FAM66C",
"hgnc_id": 21644,
"hgvs_c": "n.588-3867C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000736407.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1581,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08003118634223938,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018088.3",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538603.6",
"protein_coding": true,
"protein_id": "NP_060558.3",
"strand": false,
"transcript": "NM_018088.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000538603.6",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018088.3",
"protein_coding": true,
"protein_id": "ENSP00000445418.1",
"strand": false,
"transcript": "ENST00000538603.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001319982.2",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306911.1",
"strand": false,
"transcript": "NM_001319982.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000307435.10",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307798.6",
"strand": false,
"transcript": "ENST00000307435.10",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890758.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560817.1",
"strand": false,
"transcript": "ENST00000890758.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890759.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560818.1",
"strand": false,
"transcript": "ENST00000890759.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890760.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560819.1",
"strand": false,
"transcript": "ENST00000890760.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890761.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560820.1",
"strand": false,
"transcript": "ENST00000890761.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962992.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633051.1",
"strand": false,
"transcript": "ENST00000962992.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962993.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633052.1",
"strand": false,
"transcript": "ENST00000962993.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962994.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633053.1",
"strand": false,
"transcript": "ENST00000962994.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011520719.2",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519021.1",
"strand": false,
"transcript": "XM_011520719.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017019547.2",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875036.1",
"strand": false,
"transcript": "XM_017019547.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024449029.2",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304797.1",
"strand": false,
"transcript": "XM_024449029.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024449030.2",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304798.1",
"strand": false,
"transcript": "XM_024449030.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047429059.1",
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285015.1",
"strand": false,
"transcript": "XM_047429059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 980,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000736407.1",
"gene_hgnc_id": 21644,
"gene_symbol": "FAM66C",
"hgvs_c": "n.588-3867C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000736407.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1467852296",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25526,
"gene_symbol": "FAM90A1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.0000013807,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.495,
"pos": 8222019,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.022,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018088.3"
}
]
}