← Back to variant description
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: 19-3977503-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3977503&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3977503,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001961.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Ala725Ala",
"transcript": "NM_001961.4",
"protein_id": "NP_001952.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 858,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309311.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001961.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Ala725Ala",
"transcript": "ENST00000309311.7",
"protein_id": "ENSP00000307940.5",
"transcript_support_level": 5,
"aa_start": 725,
"aa_end": null,
"aa_length": 858,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001961.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309311.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2226A>G",
"hgvs_p": "p.Ala742Ala",
"transcript": "ENST00000858190.1",
"protein_id": "ENSP00000528249.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 875,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858190.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2205A>G",
"hgvs_p": "p.Ala735Ala",
"transcript": "ENST00000939496.1",
"protein_id": "ENSP00000609555.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 868,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939496.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Ala725Ala",
"transcript": "ENST00000858189.1",
"protein_id": "ENSP00000528248.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 866,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858189.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2169A>G",
"hgvs_p": "p.Ala723Ala",
"transcript": "ENST00000939490.1",
"protein_id": "ENSP00000609549.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 856,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939490.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2169A>G",
"hgvs_p": "p.Ala723Ala",
"transcript": "ENST00000939491.1",
"protein_id": "ENSP00000609550.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 856,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939491.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Ala725Ala",
"transcript": "ENST00000858184.1",
"protein_id": "ENSP00000528243.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 854,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858184.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2163A>G",
"hgvs_p": "p.Ala721Ala",
"transcript": "ENST00000967316.1",
"protein_id": "ENSP00000637375.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 854,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967316.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2148A>G",
"hgvs_p": "p.Ala716Ala",
"transcript": "ENST00000967318.1",
"protein_id": "ENSP00000637377.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 849,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967318.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2109A>G",
"hgvs_p": "p.Ala703Ala",
"transcript": "ENST00000858187.1",
"protein_id": "ENSP00000528246.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 836,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858187.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2106A>G",
"hgvs_p": "p.Ala702Ala",
"transcript": "ENST00000939495.1",
"protein_id": "ENSP00000609554.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 835,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939495.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2073A>G",
"hgvs_p": "p.Ala691Ala",
"transcript": "ENST00000858191.1",
"protein_id": "ENSP00000528250.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 824,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858191.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2061A>G",
"hgvs_p": "p.Ala687Ala",
"transcript": "ENST00000858185.1",
"protein_id": "ENSP00000528244.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 820,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858185.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2010A>G",
"hgvs_p": "p.Ala670Ala",
"transcript": "ENST00000858188.1",
"protein_id": "ENSP00000528247.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 803,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858188.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1821A>G",
"hgvs_p": "p.Ala607Ala",
"transcript": "ENST00000939494.1",
"protein_id": "ENSP00000609553.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 740,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939494.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1788A>G",
"hgvs_p": "p.Ala596Ala",
"transcript": "ENST00000939492.1",
"protein_id": "ENSP00000609551.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 729,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939492.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1467A>G",
"hgvs_p": "p.Ala489Ala",
"transcript": "ENST00000939497.1",
"protein_id": "ENSP00000609556.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 622,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939497.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1446A>G",
"hgvs_p": "p.Ala482Ala",
"transcript": "ENST00000858186.1",
"protein_id": "ENSP00000528245.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 615,
"cds_start": 1446,
"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": "ENST00000858186.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Ala286Ala",
"transcript": "ENST00000967319.1",
"protein_id": "ENSP00000637378.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 419,
"cds_start": 858,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967319.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.429A>G",
"hgvs_p": "p.Ala143Ala",
"transcript": "ENST00000967317.1",
"protein_id": "ENSP00000637376.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 276,
"cds_start": 429,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967317.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.995-912A>G",
"hgvs_p": null,
"transcript": "ENST00000939493.1",
"protein_id": "ENSP00000609552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.106+525A>G",
"hgvs_p": null,
"transcript": "ENST00000600794.1",
"protein_id": "ENSP00000471265.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600794.1"
}
],
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"dbsnp": "rs117017020",
"frequency_reference_population": 0.0007702824,
"hom_count_reference_population": 14,
"allele_count_reference_population": 1226,
"gnomad_exomes_af": 0.000751045,
"gnomad_genomes_af": 0.000952093,
"gnomad_exomes_ac": 1081,
"gnomad_genomes_ac": 145,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.93,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001961.4",
"gene_symbol": "EEF2",
"hgnc_id": 3214,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2175A>G",
"hgvs_p": "p.Ala725Ala"
}
],
"clinvar_disease": "EEF2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|EEF2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}