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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: 3-184328682-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184328682&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184328682,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000346169.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4005C>A",
"hgvs_p": "p.His1335Gln",
"transcript": "NM_198241.3",
"protein_id": "NP_937884.2",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4005,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 4165,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": "ENST00000346169.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4005C>A",
"hgvs_p": "p.His1335Gln",
"transcript": "ENST00000346169.7",
"protein_id": "ENSP00000316879.5",
"transcript_support_level": 1,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4005,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 4165,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": "NM_198241.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4026C>A",
"hgvs_p": "p.His1342Gln",
"transcript": "ENST00000352767.7",
"protein_id": "ENSP00000338020.4",
"transcript_support_level": 1,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4026C>A",
"hgvs_p": "p.His1342Gln",
"transcript": "ENST00000382330.7",
"protein_id": "ENSP00000371767.3",
"transcript_support_level": 1,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4225,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4008C>A",
"hgvs_p": "p.His1336Gln",
"transcript": "ENST00000342981.8",
"protein_id": "ENSP00000343450.4",
"transcript_support_level": 1,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1600,
"cds_start": 4008,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 4422,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3888C>A",
"hgvs_p": "p.His1296Gln",
"transcript": "ENST00000411531.5",
"protein_id": "ENSP00000395974.1",
"transcript_support_level": 1,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3888,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 3888,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3885C>A",
"hgvs_p": "p.His1295Gln",
"transcript": "ENST00000414031.5",
"protein_id": "ENSP00000391935.1",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3885,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 4329,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3513C>A",
"hgvs_p": "p.His1171Gln",
"transcript": "ENST00000350481.9",
"protein_id": "ENSP00000317600.8",
"transcript_support_level": 1,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3513,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.*3444C>A",
"hgvs_p": null,
"transcript": "ENST00000442406.5",
"protein_id": "ENSP00000400351.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.*3444C>A",
"hgvs_p": null,
"transcript": "ENST00000442406.5",
"protein_id": "ENSP00000400351.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4026C>A",
"hgvs_p": "p.His1342Gln",
"transcript": "NM_001194946.2",
"protein_id": "NP_001181875.2",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4186,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4026C>A",
"hgvs_p": "p.His1342Gln",
"transcript": "NM_001194947.2",
"protein_id": "NP_001181876.2",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4026C>A",
"hgvs_p": "p.His1342Gln",
"transcript": "ENST00000424196.5",
"protein_id": "ENSP00000416255.1",
"transcript_support_level": 2,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4415,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.4008C>A",
"hgvs_p": "p.His1336Gln",
"transcript": "NM_182917.4",
"protein_id": "NP_886553.3",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1600,
"cds_start": 4008,
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"cds_length": 4803,
"cdna_start": 4424,
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"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3939C>A",
"hgvs_p": "p.His1313Gln",
"transcript": "ENST00000435046.7",
"protein_id": "ENSP00000404754.3",
"transcript_support_level": 5,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1577,
"cds_start": 3939,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4138,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3885C>A",
"hgvs_p": "p.His1295Gln",
"transcript": "NM_001291157.2",
"protein_id": "NP_001278086.2",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
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"cds_start": 3885,
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"cdna_start": 4225,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3747C>A",
"hgvs_p": "p.His1249Gln",
"transcript": "ENST00000427845.5",
"protein_id": "ENSP00000407682.1",
"transcript_support_level": 5,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1513,
"cds_start": 3747,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3744C>A",
"hgvs_p": "p.His1248Gln",
"transcript": "NM_198244.3",
"protein_id": "NP_937887.2",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3744,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3927,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3744C>A",
"hgvs_p": "p.His1248Gln",
"transcript": "ENST00000392537.6",
"protein_id": "ENSP00000376320.2",
"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": 3744,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3516C>A",
"hgvs_p": "p.His1172Gln",
"transcript": "ENST00000441154.5",
"protein_id": "ENSP00000399858.1",
"transcript_support_level": 5,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3516,
"cds_end": null,
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"cdna_start": 3516,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3513C>A",
"hgvs_p": "p.His1171Gln",
"transcript": "NM_198242.3",
"protein_id": "NP_937885.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3513,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3750,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.3420C>A",
"hgvs_p": "p.His1140Gln",
"transcript": "NM_004953.5",
"protein_id": "NP_004944.3",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3420,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 5078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
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{
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}