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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: 19-3976668-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3976668&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3976668,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001961.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2463C>G",
"hgvs_p": "p.Pro821Pro",
"transcript": "NM_001961.4",
"protein_id": "NP_001952.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 858,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": "ENST00000309311.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001961.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2463C>G",
"hgvs_p": "p.Pro821Pro",
"transcript": "ENST00000309311.7",
"protein_id": "ENSP00000307940.5",
"transcript_support_level": 5,
"aa_start": 821,
"aa_end": null,
"aa_length": 858,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": "NM_001961.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309311.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2514C>G",
"hgvs_p": "p.Pro838Pro",
"transcript": "ENST00000858190.1",
"protein_id": "ENSP00000528249.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 875,
"cds_start": 2514,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858190.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2493C>G",
"hgvs_p": "p.Pro831Pro",
"transcript": "ENST00000939496.1",
"protein_id": "ENSP00000609555.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 868,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939496.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2487C>G",
"hgvs_p": "p.Pro829Pro",
"transcript": "ENST00000858189.1",
"protein_id": "ENSP00000528248.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 866,
"cds_start": 2487,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858189.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2457C>G",
"hgvs_p": "p.Pro819Pro",
"transcript": "ENST00000939490.1",
"protein_id": "ENSP00000609549.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 856,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939490.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2457C>G",
"hgvs_p": "p.Pro819Pro",
"transcript": "ENST00000939491.1",
"protein_id": "ENSP00000609550.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 856,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939491.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2451C>G",
"hgvs_p": "p.Pro817Pro",
"transcript": "ENST00000858184.1",
"protein_id": "ENSP00000528243.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 854,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858184.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2451C>G",
"hgvs_p": "p.Pro817Pro",
"transcript": "ENST00000967316.1",
"protein_id": "ENSP00000637375.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 854,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967316.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2436C>G",
"hgvs_p": "p.Pro812Pro",
"transcript": "ENST00000967318.1",
"protein_id": "ENSP00000637377.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 849,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967318.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2397C>G",
"hgvs_p": "p.Pro799Pro",
"transcript": "ENST00000858187.1",
"protein_id": "ENSP00000528246.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 836,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858187.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2394C>G",
"hgvs_p": "p.Pro798Pro",
"transcript": "ENST00000939495.1",
"protein_id": "ENSP00000609554.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 835,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939495.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2361C>G",
"hgvs_p": "p.Pro787Pro",
"transcript": "ENST00000858191.1",
"protein_id": "ENSP00000528250.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 824,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858191.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2349C>G",
"hgvs_p": "p.Pro783Pro",
"transcript": "ENST00000858185.1",
"protein_id": "ENSP00000528244.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 820,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858185.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2298C>G",
"hgvs_p": "p.Pro766Pro",
"transcript": "ENST00000858188.1",
"protein_id": "ENSP00000528247.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 803,
"cds_start": 2298,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858188.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2109C>G",
"hgvs_p": "p.Pro703Pro",
"transcript": "ENST00000939494.1",
"protein_id": "ENSP00000609553.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 740,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939494.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.2076C>G",
"hgvs_p": "p.Pro692Pro",
"transcript": "ENST00000939492.1",
"protein_id": "ENSP00000609551.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 729,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939492.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Pro585Pro",
"transcript": "ENST00000939497.1",
"protein_id": "ENSP00000609556.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 622,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939497.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1734C>G",
"hgvs_p": "p.Pro578Pro",
"transcript": "ENST00000858186.1",
"protein_id": "ENSP00000528245.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 615,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858186.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1146C>G",
"hgvs_p": "p.Pro382Pro",
"transcript": "ENST00000967319.1",
"protein_id": "ENSP00000637378.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 419,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967319.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.717C>G",
"hgvs_p": "p.Pro239Pro",
"transcript": "ENST00000967317.1",
"protein_id": "ENSP00000637376.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 276,
"cds_start": 717,
"cds_end": null,
"cds_length": 831,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1411,
"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.995-77C>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,
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{
"aa_ref": null,
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"canonical": false,
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "EEF2",
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"protein_id": "ENSP00000471265.1",
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"biotype": "protein_coding",
"feature": "ENST00000600794.1"
}
],
"gene_symbol": "EEF2",
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"dbsnp": "rs371674983",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86563e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.831,
"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.2463C>G",
"hgvs_p": "p.Pro821Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}