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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: 8-52118436-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=52118436&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 52118436,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001352837.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352837.2",
"protein_id": "NP_001339766.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3559,
"cdna_end": null,
"cdna_length": 6302,
"mane_select": "ENST00000689386.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "ENST00000689386.1",
"protein_id": "ENSP00000509475.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3559,
"cdna_end": null,
"cdna_length": 6302,
"mane_select": "NM_001352837.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "ENST00000276480.11",
"protein_id": "ENSP00000276480.7",
"transcript_support_level": 1,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 6187,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "n.*1721G>C",
"hgvs_p": null,
"transcript": "ENST00000521582.5",
"protein_id": "ENSP00000430763.1",
"transcript_support_level": 1,
"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": 3928,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "n.*2472G>C",
"hgvs_p": null,
"transcript": "ENST00000521824.5",
"protein_id": "ENSP00000429579.1",
"transcript_support_level": 1,
"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": 3870,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "n.*2723G>C",
"hgvs_p": null,
"transcript": "ENST00000522251.5",
"protein_id": "ENSP00000428920.1",
"transcript_support_level": 1,
"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": 3963,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "n.*1721G>C",
"hgvs_p": null,
"transcript": "ENST00000521582.5",
"protein_id": "ENSP00000430763.1",
"transcript_support_level": 1,
"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": 3928,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "n.*2472G>C",
"hgvs_p": null,
"transcript": "ENST00000521824.5",
"protein_id": "ENSP00000429579.1",
"transcript_support_level": 1,
"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": 3870,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "n.*2723G>C",
"hgvs_p": null,
"transcript": "ENST00000522251.5",
"protein_id": "ENSP00000428920.1",
"transcript_support_level": 1,
"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": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352826.2",
"protein_id": "NP_001339755.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352827.2",
"protein_id": "NP_001339756.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352828.2",
"protein_id": "NP_001339757.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3679,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352829.2",
"protein_id": "NP_001339758.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352830.2",
"protein_id": "NP_001339759.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
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"cdna_start": 3358,
"cdna_end": null,
"cdna_length": 6101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352831.2",
"protein_id": "NP_001339760.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352832.2",
"protein_id": "NP_001339761.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
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"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352833.2",
"protein_id": "NP_001339762.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352834.2",
"protein_id": "NP_001339763.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352835.2",
"protein_id": "NP_001339764.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
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"cdna_start": 3403,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352836.2",
"protein_id": "NP_001339765.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 5750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352838.2",
"protein_id": "NP_001339767.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln",
"transcript": "NM_001352839.2",
"protein_id": "NP_001339768.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST18",
"gene_hgnc_id": 18695,
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{
"aa_ref": "E",
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"protein_coding": true,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "ST18",
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"hgvs_c": "n.479G>C",
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"cds_start": -4,
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}
],
"gene_symbol": "ST18",
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"dbsnp": "rs772037628",
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"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": 0.21845299005508423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.154,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.743,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 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_001352837.2",
"gene_symbol": "ST18",
"hgnc_id": 18695,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2761G>C",
"hgvs_p": "p.Glu921Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}