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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: 12-53022597-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53022597&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53022597,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001300821.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "NM_001417.7",
"protein_id": "NP_001408.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 611,
"cds_start": 637,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262056.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001417.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000262056.14",
"protein_id": "ENSP00000262056.9",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 611,
"cds_start": 637,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001417.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262056.14"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961691.1",
"protein_id": "ENSP00000631750.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 621,
"cds_start": 637,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961691.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961687.1",
"protein_id": "ENSP00000631746.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 617,
"cds_start": 637,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961687.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "NM_001300821.3",
"protein_id": "NP_001287750.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 616,
"cds_start": 637,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300821.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000420463.7",
"protein_id": "ENSP00000388806.3",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 616,
"cds_start": 637,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420463.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961689.1",
"protein_id": "ENSP00000631748.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 616,
"cds_start": 637,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961689.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961690.1",
"protein_id": "ENSP00000631749.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 615,
"cds_start": 637,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961690.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961694.1",
"protein_id": "ENSP00000631753.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 613,
"cds_start": 637,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961694.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000859795.1",
"protein_id": "ENSP00000529854.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 612,
"cds_start": 637,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859795.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961686.1",
"protein_id": "ENSP00000631745.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 610,
"cds_start": 637,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961686.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961688.1",
"protein_id": "ENSP00000631747.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 609,
"cds_start": 637,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961688.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000859796.1",
"protein_id": "ENSP00000529855.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 605,
"cds_start": 637,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859796.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000859797.1",
"protein_id": "ENSP00000529856.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 604,
"cds_start": 637,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859797.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961692.1",
"protein_id": "ENSP00000631751.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 597,
"cds_start": 637,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961692.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Pro174Ala",
"transcript": "NM_001330654.2",
"protein_id": "NP_001317583.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 572,
"cds_start": 520,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330654.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Pro174Ala",
"transcript": "ENST00000416762.7",
"protein_id": "ENSP00000412530.3",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 572,
"cds_start": 520,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416762.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000961693.1",
"protein_id": "ENSP00000631752.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 521,
"cds_start": 637,
"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": "ENST00000961693.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000859798.1",
"protein_id": "ENSP00000529857.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 507,
"cds_start": 637,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859798.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000552490.5",
"protein_id": "ENSP00000450324.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 274,
"cds_start": 637,
"cds_end": null,
"cds_length": 826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552490.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Pro167Ala",
"transcript": "ENST00000551002.5",
"protein_id": "ENSP00000447192.1",
"transcript_support_level": 4,
"aa_start": 167,
"aa_end": null,
"aa_length": 168,
"cds_start": 499,
"cds_end": null,
"cds_length": 509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551002.5"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EIF4B",
"gene_hgnc_id": 3285,
"hgvs_c": "c.532+737C>G",
"hgvs_p": null,
"transcript": "ENST00000549481.5",
"protein_id": "ENSP00000449746.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549481.5"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.37,
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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],
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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
}