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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: 11-19225279-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19225279&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "E2F8",
"hgnc_id": 24727,
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024680.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CSRP3-AS1",
"hgnc_id": 54183,
"hgvs_c": "n.208-26966G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_183675.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0735,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2374972701072693,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": 2870,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_024680.4",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000250024.9",
"protein_coding": true,
"protein_id": "NP_078956.2",
"strand": false,
"transcript": "NM_024680.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": 2870,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000250024.9",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024680.4",
"protein_coding": true,
"protein_id": "ENSP00000250024.4",
"strand": false,
"transcript": "ENST00000250024.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "P",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2387,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928104.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2387C>T",
"hgvs_p": "p.Pro796Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598163.1",
"strand": false,
"transcript": "ENST00000928104.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001256371.2",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243300.1",
"strand": false,
"transcript": "NM_001256371.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001256372.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243301.1",
"strand": false,
"transcript": "NM_001256372.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000527884.5",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434199.1",
"strand": false,
"transcript": "ENST00000527884.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000620009.4",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481103.1",
"strand": false,
"transcript": "ENST00000620009.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 2548,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000966242.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Pro788Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636301.1",
"strand": false,
"transcript": "ENST00000966242.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 842,
"aa_ref": "P",
"aa_start": 763,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2288,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000898597.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Pro763Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568656.1",
"strand": false,
"transcript": "ENST00000898597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 799,
"aa_ref": "P",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2400,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000928103.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2159C>T",
"hgvs_p": "p.Pro720Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598162.1",
"strand": false,
"transcript": "ENST00000928103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 762,
"aa_ref": "P",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898598.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568657.1",
"strand": false,
"transcript": "ENST00000898598.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 762,
"aa_ref": "P",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 2561,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000966243.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636302.1",
"strand": false,
"transcript": "ENST00000966243.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 708,
"aa_ref": "P",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1886,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000898599.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.1886C>T",
"hgvs_p": "p.Pro629Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568658.1",
"strand": false,
"transcript": "ENST00000898599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 662,
"aa_ref": "P",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000928105.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.1748C>T",
"hgvs_p": "p.Pro583Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598164.1",
"strand": false,
"transcript": "ENST00000928105.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 762,
"aa_ref": "P",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3391,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011520367.2",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518669.1",
"strand": false,
"transcript": "XM_011520367.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 762,
"aa_ref": "P",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047427596.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283552.1",
"strand": false,
"transcript": "XM_047427596.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 762,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047427597.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283553.1",
"strand": false,
"transcript": "XM_047427597.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 744,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": null,
"cds_end": null,
"cds_length": 2235,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047427598.1",
"gene_hgnc_id": 24727,
"gene_symbol": "E2F8",
"hgvs_c": "c.*57C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283554.1",
"strand": false,
"transcript": "XM_047427598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527978.2",
"gene_hgnc_id": 54183,
"gene_symbol": "CSRP3-AS1",
"hgvs_c": "n.292+299G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527978.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 972,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000789312.1",
"gene_hgnc_id": 54183,
"gene_symbol": "CSRP3-AS1",
"hgvs_c": "n.159+393G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000789312.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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