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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: 3-8634092-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=8634092&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 8634092,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001256748.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.210-297A>G",
"hgvs_p": null,
"transcript": "NM_001256748.3",
"protein_id": "NP_001243677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "ENST00000544814.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256748.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.210-297A>G",
"hgvs_p": null,
"transcript": "ENST00000544814.7",
"protein_id": "ENSP00000439378.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "NM_001256748.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544814.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-156-151A>G",
"hgvs_p": null,
"transcript": "ENST00000341795.7",
"protein_id": "ENSP00000339150.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341795.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-10-297A>G",
"hgvs_p": null,
"transcript": "ENST00000420394.5",
"protein_id": "ENSP00000390328.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420394.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "n.458-297A>G",
"hgvs_p": null,
"transcript": "ENST00000413305.5",
"protein_id": "ENSP00000388845.1",
"transcript_support_level": 1,
"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": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413305.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-10-297A>G",
"hgvs_p": null,
"transcript": "NM_001256749.3",
"protein_id": "NP_001243678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256749.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-156-151A>G",
"hgvs_p": null,
"transcript": "NM_015931.4",
"protein_id": "NP_057015.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015931.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-156-151A>G",
"hgvs_p": null,
"transcript": "ENST00000317371.8",
"protein_id": "ENSP00000324551.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317371.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-156-151A>G",
"hgvs_p": null,
"transcript": "ENST00000435138.5",
"protein_id": "ENSP00000412333.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435138.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006511.2",
"protein_id": "XP_016862000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006511.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006512.2",
"protein_id": "XP_016862001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006512.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006513.2",
"protein_id": "XP_016862002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
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"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006513.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006514.2",
"protein_id": "XP_016862003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006514.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006515.2",
"protein_id": "XP_016862004.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006515.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006516.2",
"protein_id": "XP_016862005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
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"cds_length": 1677,
"cdna_start": null,
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"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006516.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_017006517.2",
"protein_id": "XP_016862006.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006517.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_047448230.1",
"protein_id": "XP_047304186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448230.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_047448231.1",
"protein_id": "XP_047304187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047448231.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_047448233.1",
"protein_id": "XP_047304189.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_047448234.1",
"protein_id": "XP_047304190.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047448234.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_047448235.1",
"protein_id": "XP_047304191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.559-97A>G",
"hgvs_p": null,
"transcript": "XM_047448236.1",
"protein_id": "XP_047304192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
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"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"biotype": "pseudogene",
"feature": "NR_046358.3"
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],
"gene_symbol": "SSUH2",
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"dbsnp": "rs11131140",
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"hom_count_reference_population": 243868,
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"gnomad_exomes_af": 0.779949,
"gnomad_genomes_af": 0.77145,
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"gnomad_genomes_ac": 117444,
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"gnomad_genomes_homalt": 45489,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.436,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001256748.3",
"gene_symbol": "SSUH2",
"hgnc_id": 24809,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.210-297A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}