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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: 10-89433171-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89433171&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89433171,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_213606.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "NM_213606.4",
"protein_id": "NP_998771.3",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371790.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213606.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000371790.5",
"protein_id": "ENSP00000360855.4",
"transcript_support_level": 2,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213606.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371790.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899673.1",
"protein_id": "ENSP00000569732.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899673.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899674.1",
"protein_id": "ENSP00000569733.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899674.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899675.1",
"protein_id": "ENSP00000569734.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899675.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899677.1",
"protein_id": "ENSP00000569736.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899677.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899678.1",
"protein_id": "ENSP00000569737.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899678.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899679.1",
"protein_id": "ENSP00000569738.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899679.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899680.1",
"protein_id": "ENSP00000569739.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899680.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899681.1",
"protein_id": "ENSP00000569740.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899681.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899682.1",
"protein_id": "ENSP00000569741.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899682.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899683.1",
"protein_id": "ENSP00000569742.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899683.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899684.1",
"protein_id": "ENSP00000569743.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899684.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899685.1",
"protein_id": "ENSP00000569744.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899685.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000899686.1",
"protein_id": "ENSP00000569745.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899686.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000924870.1",
"protein_id": "ENSP00000594929.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924870.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000951865.1",
"protein_id": "ENSP00000621924.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951865.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Leu482Met",
"transcript": "ENST00000951866.1",
"protein_id": "ENSP00000621925.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 516,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951866.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "ENST00000899676.1",
"protein_id": "ENSP00000569735.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 240,
"cds_start": 616,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899676.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "ENST00000924871.1",
"protein_id": "ENSP00000594930.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 240,
"cds_start": 616,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924871.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "ENST00000924872.1",
"protein_id": "ENSP00000594931.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 240,
"cds_start": 616,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924872.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "ENST00000924873.1",
"protein_id": "ENSP00000594932.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 240,
"cds_start": 616,
"cds_end": null,
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{
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{
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{
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{
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{
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{
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],
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"gene_symbol": "SLC16A12-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000765073.1"
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],
"gene_symbol": "SLC16A12",
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"dbsnp": "rs867769256",
"frequency_reference_population": 0.000013142331,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09260934591293335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0883,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.967,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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_213606.4",
"gene_symbol": "SLC16A12",
"hgnc_id": 23094,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1444C>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000765073.1",
"gene_symbol": "SLC16A12-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.99+957G>T",
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}
],
"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
}