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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: 3-155833968-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155833968&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155833968,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000643144.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "NM_004733.4",
"protein_id": "NP_004724.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 549,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": "ENST00000643144.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000643144.2",
"protein_id": "ENSP00000496241.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 549,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": "NM_004733.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000359479.7",
"protein_id": "ENSP00000352456.3",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 549,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284952",
"gene_hgnc_id": null,
"hgvs_c": "n.*359C>T",
"hgvs_p": null,
"transcript": "ENST00000643876.1",
"protein_id": "ENSP00000495323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284952",
"gene_hgnc_id": null,
"hgvs_c": "n.*359C>T",
"hgvs_p": null,
"transcript": "ENST00000643876.1",
"protein_id": "ENSP00000495323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "NM_001190992.2",
"protein_id": "NP_001177921.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 549,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ala65Val",
"transcript": "ENST00000475842.5",
"protein_id": "ENSP00000419066.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 268,
"cds_start": 194,
"cds_end": null,
"cds_length": 807,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "XM_047449196.1",
"protein_id": "XP_047305152.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 392,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Ala176Val",
"transcript": "XM_017007463.2",
"protein_id": "XP_016862952.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 379,
"cds_start": 527,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 9381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Ala176Val",
"transcript": "XM_047449197.1",
"protein_id": "XP_047305153.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 379,
"cds_start": 527,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ala75Val",
"transcript": "XM_017007464.2",
"protein_id": "XP_016862953.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 278,
"cds_start": 224,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 9078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ala75Val",
"transcript": "XM_047449200.1",
"protein_id": "XP_047305156.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 278,
"cds_start": 224,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.849C>T",
"hgvs_p": "p.Ser283Ser",
"transcript": "NM_001363883.1",
"protein_id": "NP_001350812.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 447,
"cds_start": 849,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.849C>T",
"hgvs_p": "p.Ser283Ser",
"transcript": "ENST00000646424.1",
"protein_id": "ENSP00000494846.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 447,
"cds_start": 849,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.849C>T",
"hgvs_p": "p.Ser283Ser",
"transcript": "XM_047449195.1",
"protein_id": "XP_047305151.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 447,
"cds_start": 849,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.849C>T",
"hgvs_p": "p.Ser283Ser",
"transcript": "XM_047449199.1",
"protein_id": "XP_047305155.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 335,
"cds_start": 849,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "n.849C>T",
"hgvs_p": null,
"transcript": "ENST00000468581.2",
"protein_id": "ENSP00000418847.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"transcript": "ENST00000642438.1",
"protein_id": "ENSP00000495971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"transcript": "ENST00000644855.1",
"protein_id": "ENSP00000493564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"transcript": "ENST00000642438.1",
"protein_id": "ENSP00000495971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "n.*348C>T",
"hgvs_p": null,
"transcript": "ENST00000644855.1",
"protein_id": "ENSP00000493564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "c.175-4065C>T",
"hgvs_p": null,
"transcript": "ENST00000496772.1",
"protein_id": "ENSP00000419165.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"hgvs_c": "n.964-383C>T",
"hgvs_p": null,
"transcript": "ENST00000644094.1",
"protein_id": "ENSP00000494476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"transcript": "XM_011513311.4",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "SLC33A1",
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"transcript": "XM_047449194.1",
"protein_id": "XP_047305150.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "SLC33A1",
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"hgvs_c": "c.964-383C>T",
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"transcript": "XM_047449198.1",
"protein_id": "XP_047305154.1",
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"cds_end": null,
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"cdna_length": 1480,
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"feature": null
}
],
"gene_symbol": "SLC33A1",
"gene_hgnc_id": 95,
"dbsnp": "rs771681797",
"frequency_reference_population": 0.000006197384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615846,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8632904291152954,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.761,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.864,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643144.2",
"gene_symbol": "SLC33A1",
"hgnc_id": 95,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643876.1",
"gene_symbol": "ENSG00000284952",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*359C>T",
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}
],
"clinvar_disease": "Spastic paraplegia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}