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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: 2-27366880-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27366880&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27366880,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318965.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1070G>T",
"hgvs_p": "p.Arg357Leu",
"transcript": "NM_001034116.2",
"protein_id": "NP_001029288.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 523,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034116.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1070G>T",
"hgvs_p": "p.Arg357Leu",
"transcript": "ENST00000347454.9",
"protein_id": "ENSP00000233552.6",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 523,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001034116.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347454.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1130G>T",
"hgvs_p": "p.Arg377Leu",
"transcript": "ENST00000451130.6",
"protein_id": "ENSP00000394869.2",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 543,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451130.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1067G>T",
"hgvs_p": "p.Arg356Leu",
"transcript": "ENST00000445933.6",
"protein_id": "ENSP00000394397.2",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 522,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445933.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*336G>T",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000405940.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*336G>T",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000405940.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "ENST00000945158.1",
"protein_id": "ENSP00000615217.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 550,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945158.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Arg378Leu",
"transcript": "NM_001318965.2",
"protein_id": "NP_001305894.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 544,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318965.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Arg378Leu",
"transcript": "ENST00000493344.6",
"protein_id": "ENSP00000429323.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 544,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493344.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1130G>T",
"hgvs_p": "p.Arg377Leu",
"transcript": "NM_172195.4",
"protein_id": "NP_751945.2",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 543,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172195.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Arg369Leu",
"transcript": "ENST00000920939.1",
"protein_id": "ENSP00000590998.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 535,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920939.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1091G>T",
"hgvs_p": "p.Arg364Leu",
"transcript": "ENST00000945157.1",
"protein_id": "ENSP00000615216.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 530,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945157.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000945155.1",
"protein_id": "ENSP00000615214.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 529,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945155.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1067G>T",
"hgvs_p": "p.Arg356Leu",
"transcript": "NM_015636.4",
"protein_id": "NP_056451.3",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 522,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015636.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1067G>T",
"hgvs_p": "p.Arg356Leu",
"transcript": "ENST00000920928.1",
"protein_id": "ENSP00000590987.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 522,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920928.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1067G>T",
"hgvs_p": "p.Arg356Leu",
"transcript": "ENST00000920929.1",
"protein_id": "ENSP00000590988.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 522,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920929.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Arg355Leu",
"transcript": "ENST00000920931.1",
"protein_id": "ENSP00000590990.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 521,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920931.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Arg355Leu",
"transcript": "ENST00000945153.1",
"protein_id": "ENSP00000615212.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 521,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945153.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1025G>T",
"hgvs_p": "p.Arg342Leu",
"transcript": "NM_001318966.2",
"protein_id": "NP_001305895.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 508,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318966.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1022G>T",
"hgvs_p": "p.Arg341Leu",
"transcript": "ENST00000945152.1",
"protein_id": "ENSP00000615211.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 507,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945152.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Arg326Leu",
"transcript": "NM_001318967.2",
"protein_id": "NP_001305896.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 492,
"cds_start": 977,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318967.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Arg326Leu",
"transcript": "ENST00000945151.1",
"protein_id": "ENSP00000615210.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 492,
"cds_start": 977,
"cds_end": null,
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{
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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"pathogenicity_classification_combined": null,
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}
],
"message": null
}