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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: 2-219601704-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219601704&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219601704,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_052902.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "NM_052902.4",
"protein_id": "NP_443134.3",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1088,
"cds_start": 331,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456909.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052902.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000456909.6",
"protein_id": "ENSP00000389383.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 1088,
"cds_start": 331,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456909.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879651.1",
"protein_id": "ENSP00000549710.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1088,
"cds_start": 331,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879651.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879655.1",
"protein_id": "ENSP00000549714.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1088,
"cds_start": 331,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879655.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000964335.1",
"protein_id": "ENSP00000634394.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1088,
"cds_start": 331,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964335.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Arg",
"transcript": "ENST00000939312.1",
"protein_id": "ENSP00000609371.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1079,
"cds_start": 304,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939312.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879649.1",
"protein_id": "ENSP00000549708.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1074,
"cds_start": 331,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879649.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879650.1",
"protein_id": "ENSP00000549709.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1069,
"cds_start": 331,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879650.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879653.1",
"protein_id": "ENSP00000549712.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1064,
"cds_start": 331,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879653.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879652.1",
"protein_id": "ENSP00000549711.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1052,
"cds_start": 331,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879652.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000939311.1",
"protein_id": "ENSP00000609370.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1039,
"cds_start": 331,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939311.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879656.1",
"protein_id": "ENSP00000549715.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1025,
"cds_start": 331,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879656.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000879654.1",
"protein_id": "ENSP00000549713.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1011,
"cds_start": 331,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879654.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "ENST00000964336.1",
"protein_id": "ENSP00000634395.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 878,
"cds_start": 331,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964336.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "XM_011510526.2",
"protein_id": "XP_011508828.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1066,
"cds_start": 331,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510526.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "XM_011510527.4",
"protein_id": "XP_011508829.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1041,
"cds_start": 331,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510527.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "XM_047443102.1",
"protein_id": "XP_047299058.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1014,
"cds_start": 331,
"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": "XM_047443102.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "XM_047443104.1",
"protein_id": "XP_047299060.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 813,
"cds_start": 331,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443104.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg",
"transcript": "XM_011510529.2",
"protein_id": "XP_011508831.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 704,
"cds_start": 331,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510529.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "n.*112C>A",
"hgvs_p": null,
"transcript": "ENST00000456857.5",
"protein_id": "ENSP00000394192.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456857.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "n.337C>A",
"hgvs_p": null,
"transcript": "ENST00000459692.1",
"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": "ENST00000459692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11IP",
"gene_hgnc_id": 19184,
"hgvs_c": "n.354C>A",
"hgvs_p": null,
"transcript": "ENST00000468584.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000468584.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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{
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "STK11IP",
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"frequency_reference_population": 6.884037e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88404e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.20999999344348907,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.873,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
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"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_052902.4",
"gene_symbol": "STK11IP",
"hgnc_id": 19184,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Arg111Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}