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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: 1-109230944-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109230944&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109230944,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330669.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "NM_006513.4",
"protein_id": "NP_006504.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 514,
"cds_start": 514,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234677.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006513.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000234677.7",
"protein_id": "ENSP00000234677.2",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 514,
"cds_start": 514,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006513.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234677.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.631G>T",
"hgvs_p": "p.Asp211Tyr",
"transcript": "ENST00000943750.1",
"protein_id": "ENSP00000613809.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 575,
"cds_start": 631,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943750.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.631G>T",
"hgvs_p": "p.Asp211Tyr",
"transcript": "ENST00000943751.1",
"protein_id": "ENSP00000613810.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 553,
"cds_start": 631,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943751.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000943753.1",
"protein_id": "ENSP00000613812.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 545,
"cds_start": 514,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943753.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000854548.1",
"protein_id": "ENSP00000524607.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 539,
"cds_start": 514,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854548.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000943752.1",
"protein_id": "ENSP00000613811.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 538,
"cds_start": 514,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943752.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "NM_001330669.1",
"protein_id": "NP_001317598.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 536,
"cds_start": 514,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330669.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000369923.4",
"protein_id": "ENSP00000358939.4",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 536,
"cds_start": 514,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369923.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000854549.1",
"protein_id": "ENSP00000524608.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 526,
"cds_start": 514,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854549.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000854545.1",
"protein_id": "ENSP00000524604.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 514,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854545.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.535G>T",
"hgvs_p": "p.Asp179Tyr",
"transcript": "ENST00000854546.1",
"protein_id": "ENSP00000524605.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 521,
"cds_start": 535,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854546.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000933282.1",
"protein_id": "ENSP00000603341.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 514,
"cds_start": 514,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933282.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000933281.1",
"protein_id": "ENSP00000603340.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 512,
"cds_start": 514,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933281.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000943754.1",
"protein_id": "ENSP00000613813.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 511,
"cds_start": 514,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943754.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000943756.1",
"protein_id": "ENSP00000613815.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 493,
"cds_start": 514,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943756.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000933284.1",
"protein_id": "ENSP00000603343.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 485,
"cds_start": 514,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933284.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000854547.1",
"protein_id": "ENSP00000524606.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 480,
"cds_start": 514,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854547.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000943755.1",
"protein_id": "ENSP00000613814.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 462,
"cds_start": 514,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943755.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr",
"transcript": "ENST00000933283.1",
"protein_id": "ENSP00000603342.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 459,
"cds_start": 514,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933283.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "c.448-687G>T",
"hgvs_p": null,
"transcript": "ENST00000854550.1",
"protein_id": "ENSP00000524609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854550.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "n.472+1372G>T",
"hgvs_p": null,
"transcript": "ENST00000477544.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000477544.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"hgvs_c": "n.-214G>T",
"hgvs_p": null,
"transcript": "ENST00000471705.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000471705.1"
}
],
"gene_symbol": "SARS1",
"gene_hgnc_id": 10537,
"dbsnp": "rs1553178049",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9331690073013306,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.858,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9778,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.721,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330669.1",
"gene_symbol": "SARS1",
"hgnc_id": 10537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Asp172Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}