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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: 19-3980691-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3980691&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3980691,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001961.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "NM_001961.4",
"protein_id": "NP_001952.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 858,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000309311.7",
"protein_id": "ENSP00000307940.5",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 858,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000858190.1",
"protein_id": "ENSP00000528249.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 875,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000939496.1",
"protein_id": "ENSP00000609555.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 868,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000858189.1",
"protein_id": "ENSP00000528248.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 866,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000939490.1",
"protein_id": "ENSP00000609549.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 856,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1163C>G",
"hgvs_p": "p.Pro388Arg",
"transcript": "ENST00000939491.1",
"protein_id": "ENSP00000609550.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 856,
"cds_start": 1163,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000858184.1",
"protein_id": "ENSP00000528243.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 854,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1157C>G",
"hgvs_p": "p.Pro386Arg",
"transcript": "ENST00000967316.1",
"protein_id": "ENSP00000637375.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 854,
"cds_start": 1157,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1142C>G",
"hgvs_p": "p.Pro381Arg",
"transcript": "ENST00000967318.1",
"protein_id": "ENSP00000637377.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 849,
"cds_start": 1142,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1103C>G",
"hgvs_p": "p.Pro368Arg",
"transcript": "ENST00000858187.1",
"protein_id": "ENSP00000528246.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 836,
"cds_start": 1103,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000939495.1",
"protein_id": "ENSP00000609554.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 835,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Pro356Arg",
"transcript": "ENST00000858191.1",
"protein_id": "ENSP00000528250.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 824,
"cds_start": 1067,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Pro352Arg",
"transcript": "ENST00000858185.1",
"protein_id": "ENSP00000528244.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 820,
"cds_start": 1055,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000858188.1",
"protein_id": "ENSP00000528247.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 803,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000939494.1",
"protein_id": "ENSP00000609553.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 740,
"cds_start": 1169,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.782C>G",
"hgvs_p": "p.Pro261Arg",
"transcript": "ENST00000939492.1",
"protein_id": "ENSP00000609551.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 729,
"cds_start": 782,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Pro147Arg",
"transcript": "ENST00000858186.1",
"protein_id": "ENSP00000528245.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 615,
"cds_start": 440,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858186.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.898-1255C>G",
"hgvs_p": null,
"transcript": "ENST00000939497.1",
"protein_id": "ENSP00000609556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"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": 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": 2,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.127-722C>G",
"hgvs_p": null,
"transcript": "ENST00000967319.1",
"protein_id": "ENSP00000637378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967319.1"
},
{
"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.994+665C>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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"hgvs_c": "c.118-2669C>G",
"hgvs_p": null,
"transcript": "ENST00000967317.1",
"protein_id": "ENSP00000637376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "EEF2",
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"transcript": "ENST00000598182.5",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000598182.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"gene_symbol": "EEF2",
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"hgvs_c": "n.*249C>G",
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"transcript": "ENST00000598436.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000598436.1"
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],
"gene_symbol": "EEF2",
"gene_hgnc_id": 3214,
"dbsnp": "rs763170059",
"frequency_reference_population": 0.000002052916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205292,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6722033023834229,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4468,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.942,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001961.4",
"gene_symbol": "EEF2",
"hgnc_id": 3214,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}