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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: 3-71690115-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=71690115&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF4E3",
"hgnc_id": 31837,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001134651.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"hgvs_c": "c.-525G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000647725.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0809,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04745817184448242,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9978,
"cdna_start": 558,
"cds_end": null,
"cds_length": 675,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001134651.2",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000425534.8",
"protein_coding": true,
"protein_id": "NP_001128123.1",
"strand": false,
"transcript": "NM_001134651.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 224,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9978,
"cdna_start": 558,
"cds_end": null,
"cds_length": 675,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000425534.8",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001134651.2",
"protein_coding": true,
"protein_id": "ENSP00000393324.2",
"strand": false,
"transcript": "ENST00000425534.8",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2764,
"cdna_start": 657,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000295612.7",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295612.3",
"strand": false,
"transcript": "ENST00000295612.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 777,
"cdna_start": 625,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000421769.6",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411762.2",
"strand": false,
"transcript": "ENST00000421769.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 677,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": null,
"cds_end": null,
"cds_length": 2034,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000647725.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285708",
"hgvs_c": "c.-525G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497585.1",
"strand": false,
"transcript": "ENST00000647725.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 172,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 404,
"cds_end": null,
"cds_length": 519,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000859497.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529556.1",
"strand": false,
"transcript": "ENST00000859497.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 168,
"aa_ref": "V",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 378,
"cds_end": null,
"cds_length": 507,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948192.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Val119Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618251.1",
"strand": false,
"transcript": "ENST00000948192.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10199,
"cdna_start": 779,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001134649.3",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128121.1",
"strand": false,
"transcript": "NM_001134649.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6085,
"cdna_start": 540,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001134650.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128122.1",
"strand": false,
"transcript": "NM_001134650.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10044,
"cdna_start": 624,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282886.2",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269815.1",
"strand": false,
"transcript": "NM_001282886.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10045,
"cdna_start": 625,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_173359.5",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775495.1",
"strand": false,
"transcript": "NM_173359.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6083,
"cdna_start": 540,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000389826.7",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374476.3",
"strand": false,
"transcript": "ENST00000389826.7",
"transcript_support_level": 5
},
{
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"aa_length": 118,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6209,
"cdna_start": 664,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000448225.5",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410350.1",
"strand": false,
"transcript": "ENST00000448225.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 92,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": 619,
"cds_end": null,
"cds_length": 279,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000497838.5",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418211.1",
"strand": false,
"transcript": "ENST00000497838.5",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 256,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": 558,
"cds_end": null,
"cds_length": 771,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047448060.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304016.1",
"strand": false,
"transcript": "XM_047448060.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 204,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 708,
"cdna_start": 402,
"cds_end": null,
"cds_length": 615,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047448061.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304017.1",
"strand": false,
"transcript": "XM_047448061.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 172,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9822,
"cdna_start": 402,
"cds_end": null,
"cds_length": 519,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011533651.4",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531953.1",
"strand": false,
"transcript": "XM_011533651.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10166,
"cdna_start": 746,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448062.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304018.1",
"strand": false,
"transcript": "XM_047448062.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10321,
"cdna_start": 901,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448063.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304019.1",
"strand": false,
"transcript": "XM_047448063.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 118,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10076,
"cdna_start": 656,
"cds_end": null,
"cds_length": 357,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047448064.1",
"gene_hgnc_id": 31837,
"gene_symbol": "EIF4E3",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304020.1",
"strand": false,
"transcript": "XM_047448064.1",
"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": 567,
"cdna_start": null,
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}