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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: 19-3978116-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3978116&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3978116,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001961.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1770C>G",
"hgvs_p": "p.Leu590Leu",
"transcript": "NM_001961.4",
"protein_id": "NP_001952.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 858,
"cds_start": 1770,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1770C>G",
"hgvs_p": "p.Leu590Leu",
"transcript": "ENST00000309311.7",
"protein_id": "ENSP00000307940.5",
"transcript_support_level": 5,
"aa_start": 590,
"aa_end": null,
"aa_length": 858,
"cds_start": 1770,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1821C>G",
"hgvs_p": "p.Leu607Leu",
"transcript": "ENST00000858190.1",
"protein_id": "ENSP00000528249.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 875,
"cds_start": 1821,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1800C>G",
"hgvs_p": "p.Leu600Leu",
"transcript": "ENST00000939496.1",
"protein_id": "ENSP00000609555.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 868,
"cds_start": 1800,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1770C>G",
"hgvs_p": "p.Leu590Leu",
"transcript": "ENST00000858189.1",
"protein_id": "ENSP00000528248.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 866,
"cds_start": 1770,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1764C>G",
"hgvs_p": "p.Leu588Leu",
"transcript": "ENST00000939490.1",
"protein_id": "ENSP00000609549.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 856,
"cds_start": 1764,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1764C>G",
"hgvs_p": "p.Leu588Leu",
"transcript": "ENST00000939491.1",
"protein_id": "ENSP00000609550.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 856,
"cds_start": 1764,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1770C>G",
"hgvs_p": "p.Leu590Leu",
"transcript": "ENST00000858184.1",
"protein_id": "ENSP00000528243.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 854,
"cds_start": 1770,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1758C>G",
"hgvs_p": "p.Leu586Leu",
"transcript": "ENST00000967316.1",
"protein_id": "ENSP00000637375.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 854,
"cds_start": 1758,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1743C>G",
"hgvs_p": "p.Leu581Leu",
"transcript": "ENST00000967318.1",
"protein_id": "ENSP00000637377.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 849,
"cds_start": 1743,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1704C>G",
"hgvs_p": "p.Leu568Leu",
"transcript": "ENST00000858187.1",
"protein_id": "ENSP00000528246.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 836,
"cds_start": 1704,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1668C>G",
"hgvs_p": "p.Leu556Leu",
"transcript": "ENST00000858191.1",
"protein_id": "ENSP00000528250.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 824,
"cds_start": 1668,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1656C>G",
"hgvs_p": "p.Leu552Leu",
"transcript": "ENST00000858185.1",
"protein_id": "ENSP00000528244.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 820,
"cds_start": 1656,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1383C>G",
"hgvs_p": "p.Leu461Leu",
"transcript": "ENST00000939492.1",
"protein_id": "ENSP00000609551.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 729,
"cds_start": 1383,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1062C>G",
"hgvs_p": "p.Leu354Leu",
"transcript": "ENST00000939497.1",
"protein_id": "ENSP00000609556.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 622,
"cds_start": 1062,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1041C>G",
"hgvs_p": "p.Leu347Leu",
"transcript": "ENST00000858186.1",
"protein_id": "ENSP00000528245.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 615,
"cds_start": 1041,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000967319.1",
"protein_id": "ENSP00000637378.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 419,
"cds_start": 453,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.18C>G",
"hgvs_p": "p.Leu6Leu",
"transcript": "ENST00000600794.1",
"protein_id": "ENSP00000471265.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 84,
"cds_start": 18,
"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"
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1714-13C>G",
"hgvs_p": null,
"transcript": "ENST00000939495.1",
"protein_id": "ENSP00000609554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1714-109C>G",
"hgvs_p": null,
"transcript": "ENST00000858188.1",
"protein_id": "ENSP00000528247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1714-506C>G",
"hgvs_p": null,
"transcript": "ENST00000939494.1",
"protein_id": "ENSP00000609553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": null,
"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": 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.995-1525C>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,
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{
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"feature": "ENST00000967317.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 2,
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"gene_symbol": "EEF2",
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"hgvs_c": "n.188C>G",
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"transcript": "ENST00000596417.1",
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"biotype": "retained_intron",
"feature": "ENST00000596417.1"
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],
"gene_symbol": "EEF2",
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"dbsnp": "rs145540039",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.37634e-7,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.755,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001961.4",
"gene_symbol": "EEF2",
"hgnc_id": 3214,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1770C>G",
"hgvs_p": "p.Leu590Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}