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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: 3-69181280-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69181280&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69181280,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015123.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Ile",
"transcript": "NM_015123.3",
"protein_id": "NP_055938.2",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398540.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015123.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Ile",
"transcript": "ENST00000398540.8",
"protein_id": "ENSP00000381549.3",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015123.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398540.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Val476Ile",
"transcript": "ENST00000478263.5",
"protein_id": "ENSP00000418682.1",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 686,
"cds_start": 1426,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478263.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2410G>A",
"hgvs_p": "p.Val804Ile",
"transcript": "ENST00000863518.1",
"protein_id": "ENSP00000533577.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2410,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863518.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Ile",
"transcript": "XM_017005989.2",
"protein_id": "XP_016861478.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005989.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Val779Ile",
"transcript": "XM_017005990.2",
"protein_id": "XP_016861479.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005990.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_017005991.2",
"protein_id": "XP_016861480.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005991.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_017005992.2",
"protein_id": "XP_016861481.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005992.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_047447767.1",
"protein_id": "XP_047303723.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447767.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_047447768.1",
"protein_id": "XP_047303724.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447768.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Val779Ile",
"transcript": "XM_005264722.2",
"protein_id": "XP_005264779.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 989,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264722.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_017005993.2",
"protein_id": "XP_016861482.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 980,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005993.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_017005994.2",
"protein_id": "XP_016861483.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 980,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005994.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_047447769.1",
"protein_id": "XP_047303725.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 980,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447769.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_047447770.1",
"protein_id": "XP_047303726.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 980,
"cds_start": 2308,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447770.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Val770Ile",
"transcript": "XM_047447771.1",
"protein_id": "XP_047303727.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 980,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447771.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Val579Ile",
"transcript": "XM_017005995.2",
"protein_id": "XP_016861484.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 818,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005995.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Val579Ile",
"transcript": "XM_047447772.1",
"protein_id": "XP_047303728.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 818,
"cds_start": 1735,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447772.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_017005996.2",
"protein_id": "XP_016861485.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 774,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005996.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_047447773.1",
"protein_id": "XP_047303729.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 745,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447773.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Val476Ile",
"transcript": "XM_017005997.2",
"protein_id": "XP_016861486.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 715,
"cds_start": 1426,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005997.2"
}
],
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"dbsnp": null,
"frequency_reference_population": 0.0000013683278,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136833,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09745955467224121,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.0719,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.221,
"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": 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_015123.3",
"gene_symbol": "FRMD4B",
"hgnc_id": 24886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Ile"
}
],
"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
}