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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: 10-69157082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69157082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69157082,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004896.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "NM_004896.5",
"protein_id": "NP_004887.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 327,
"cds_start": 305,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263559.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004896.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000263559.11",
"protein_id": "ENSP00000263559.6",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 327,
"cds_start": 305,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004896.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263559.11"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000949228.1",
"protein_id": "ENSP00000619287.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 337,
"cds_start": 305,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949228.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000858435.1",
"protein_id": "ENSP00000528494.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 333,
"cds_start": 305,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858435.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000373382.5",
"protein_id": "ENSP00000362480.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 327,
"cds_start": 305,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373382.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000940626.1",
"protein_id": "ENSP00000610685.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 326,
"cds_start": 305,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940626.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Thr95Ile",
"transcript": "NM_001318944.2",
"protein_id": "NP_001305873.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 320,
"cds_start": 284,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318944.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000940629.1",
"protein_id": "ENSP00000610688.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 316,
"cds_start": 305,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940629.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Ile",
"transcript": "ENST00000858432.1",
"protein_id": "ENSP00000528491.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 312,
"cds_start": 260,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858432.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Thr85Ile",
"transcript": "NM_001318945.2",
"protein_id": "NP_001305874.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318945.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000940628.1",
"protein_id": "ENSP00000610687.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 306,
"cds_start": 305,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940628.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000858433.1",
"protein_id": "ENSP00000528492.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 304,
"cds_start": 305,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858433.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000858434.1",
"protein_id": "ENSP00000528493.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 293,
"cds_start": 305,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858434.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "NM_001035260.3",
"protein_id": "NP_001030337.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 251,
"cds_start": 305,
"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": "NM_001035260.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000395098.5",
"protein_id": "ENSP00000378532.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 251,
"cds_start": 305,
"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": "ENST00000395098.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Ile",
"transcript": "ENST00000489794.1",
"protein_id": "ENSP00000474611.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 226,
"cds_start": 230,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.-29C>T",
"hgvs_p": null,
"transcript": "NM_001318946.2",
"protein_id": "NP_001305875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "c.154-1038C>T",
"hgvs_p": null,
"transcript": "ENST00000940627.1",
"protein_id": "ENSP00000610686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940627.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.*37C>T",
"hgvs_p": null,
"transcript": "ENST00000489656.5",
"protein_id": "ENSP00000473746.1",
"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": "ENST00000489656.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"transcript": "ENST00000490696.5",
"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": "ENST00000490696.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.247C>T",
"hgvs_p": null,
"transcript": "ENST00000497564.5",
"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": "ENST00000497564.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.*37C>T",
"hgvs_p": null,
"transcript": "ENST00000489656.5",
"protein_id": "ENSP00000473746.1",
"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": "ENST00000489656.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"hgvs_c": "n.186-965C>T",
"hgvs_p": null,
"transcript": "ENST00000467852.1",
"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": "ENST00000467852.1"
}
],
"gene_symbol": "VPS26A",
"gene_hgnc_id": 12711,
"dbsnp": "rs570302033",
"frequency_reference_population": 0.000009295788,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000273718,
"gnomad_genomes_af": 0.0000722373,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3489305377006531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004896.5",
"gene_symbol": "VPS26A",
"hgnc_id": 12711,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile"
}
],
"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
}