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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: 19-46755610-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755610&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46755610,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000318584.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 495,
"cds_start": 160,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 495,
"cds_start": 160,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 495,
"cds_start": 160,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 495,
"cds_start": 160,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 161,
"cds_start": 160,
"cds_end": null,
"cds_length": 487,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000593902.1",
"protein_id": "ENSP00000470901.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 136,
"cds_start": 160,
"cds_end": null,
"cds_length": 411,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000600005.5",
"protein_id": "ENSP00000470335.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 113,
"cds_start": 160,
"cds_end": null,
"cds_length": 342,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000600227.5",
"protein_id": "ENSP00000468825.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 105,
"cds_start": 160,
"cds_end": null,
"cds_length": 318,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000593800.5",
"protein_id": "ENSP00000471209.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 100,
"cds_start": 160,
"cds_end": null,
"cds_length": 303,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000602181.5",
"protein_id": "ENSP00000472981.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 94,
"cds_start": 160,
"cds_end": null,
"cds_length": 287,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000593875.5",
"protein_id": "ENSP00000470297.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 85,
"cds_start": 160,
"cds_end": null,
"cds_length": 259,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000600629.5",
"protein_id": "ENSP00000470096.1",
"transcript_support_level": 4,
"aa_start": 54,
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"aa_length": 79,
"cds_start": 160,
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"cds_length": 240,
"cdna_start": 517,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000600834.5",
"protein_id": "ENSP00000470024.1",
"transcript_support_level": 4,
"aa_start": 54,
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"aa_length": 71,
"cds_start": 160,
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"cdna_start": 495,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000595868.5",
"protein_id": "ENSP00000471573.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "FKRP",
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"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000596460.5",
"protein_id": "ENSP00000469373.1",
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"aa_start": 54,
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"aa_length": 67,
"cds_start": 160,
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"cdna_start": 524,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000595570.5",
"protein_id": "ENSP00000470929.1",
"transcript_support_level": 3,
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},
{
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],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "ENST00000597313.5",
"protein_id": "ENSP00000472370.1",
"transcript_support_level": 5,
"aa_start": 54,
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"cdna_start": 565,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "XM_005259247.3",
"protein_id": "XP_005259304.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 495,
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"cdna_start": 570,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "XM_005259248.3",
"protein_id": "XP_005259305.1",
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},
{
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],
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"gene_symbol": "FKRP",
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"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "XM_005259249.5",
"protein_id": "XP_005259306.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "FKRP",
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"hgvs_c": "c.160C>G",
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"protein_id": "XP_011525608.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "XM_011527307.2",
"protein_id": "XP_011525609.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 495,
"cds_start": 160,
"cds_end": null,
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"cdna_start": 356,
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"cdna_length": 3321,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.160C>G",
"hgvs_p": "p.Arg54Gly",
"transcript": "XM_017027297.3",
"protein_id": "XP_016882786.1",
"transcript_support_level": null,
"aa_start": 54,
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"cds_start": 160,
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"cdna_start": 665,
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