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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: 19-3983231-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3983231&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EEF2",
"hgnc_id": 3214,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001961.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 423,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2577,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001961.4",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309311.7",
"protein_coding": true,
"protein_id": "NP_001952.1",
"strand": false,
"transcript": "NM_001961.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2577,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000309311.7",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001961.4",
"protein_coding": true,
"protein_id": "ENSP00000307940.5",
"strand": false,
"transcript": "ENST00000309311.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 875,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2628,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858190.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528249.1",
"strand": false,
"transcript": "ENST00000858190.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 868,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2607,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939496.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609555.1",
"strand": false,
"transcript": "ENST00000939496.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 866,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2601,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858189.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528248.1",
"strand": false,
"transcript": "ENST00000858189.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 856,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 378,
"cds_end": null,
"cds_length": 2571,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939490.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609549.1",
"strand": false,
"transcript": "ENST00000939490.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 856,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 357,
"cds_end": null,
"cds_length": 2571,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939491.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Lys91Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609550.1",
"strand": false,
"transcript": "ENST00000939491.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 854,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 363,
"cds_end": null,
"cds_length": 2565,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858184.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528243.1",
"strand": false,
"transcript": "ENST00000858184.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 854,
"aa_ref": "K",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 350,
"cds_end": null,
"cds_length": 2565,
"cds_start": 267,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967316.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.267G>A",
"hgvs_p": "p.Lys89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637375.1",
"strand": false,
"transcript": "ENST00000967316.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 849,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 363,
"cds_end": null,
"cds_length": 2550,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967318.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637377.1",
"strand": false,
"transcript": "ENST00000967318.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 836,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2511,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858187.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528246.1",
"strand": false,
"transcript": "ENST00000858187.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 835,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2508,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939495.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609554.1",
"strand": false,
"transcript": "ENST00000939495.1",
"transcript_support_level": null
},
{
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"aa_length": 824,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 260,
"cds_end": null,
"cds_length": 2475,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858191.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Lys59Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528250.1",
"strand": false,
"transcript": "ENST00000858191.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2463,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858185.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528244.1",
"strand": false,
"transcript": "ENST00000858185.1",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2412,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858188.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528247.1",
"strand": false,
"transcript": "ENST00000858188.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 740,
"aa_ref": "K",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2223,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939494.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609553.1",
"strand": false,
"transcript": "ENST00000939494.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 622,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1869,
"cds_start": 279,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939497.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609556.1",
"strand": false,
"transcript": "ENST00000939497.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"exon_rank_end": null,
"feature": "ENST00000939493.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Lys93Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609552.1",
"strand": false,
"transcript": "ENST00000939493.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2774,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000939492.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.49-248G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609551.1",
"strand": false,
"transcript": "ENST00000939492.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858186.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.49-972G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528245.1",
"strand": false,
"transcript": "ENST00000858186.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": null,
"cds_end": null,
"cds_length": 1260,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967319.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.126+997G>A",
"hgvs_p": null,
"intron_rank": 2,
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