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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: 19-46755845-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755845&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46755845,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000318584.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": 132,
"aa_end": null,
"aa_length": 161,
"cds_start": 395,
"cds_end": null,
"cds_length": 487,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "ENST00000593902.1",
"protein_id": "ENSP00000470901.1",
"transcript_support_level": 4,
"aa_start": 132,
"aa_end": null,
"aa_length": 136,
"cds_start": 395,
"cds_end": null,
"cds_length": 411,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_005259247.3",
"protein_id": "XP_005259304.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_005259248.3",
"protein_id": "XP_005259305.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_005259249.5",
"protein_id": "XP_005259306.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_011527306.3",
"protein_id": "XP_011525608.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_011527307.2",
"protein_id": "XP_011525609.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_017027297.3",
"protein_id": "XP_016882786.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_024451707.2",
"protein_id": "XP_024307475.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
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"cds_length": 1488,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439421.1",
"protein_id": "XP_047295377.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439422.1",
"protein_id": "XP_047295378.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
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"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439423.1",
"protein_id": "XP_047295379.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439424.1",
"protein_id": "XP_047295380.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
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"cdna_start": 1170,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439425.1",
"protein_id": "XP_047295381.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1109,
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"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439426.1",
"protein_id": "XP_047295382.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439427.1",
"protein_id": "XP_047295383.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "G",
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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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439428.1",
"protein_id": "XP_047295384.1",
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"aa_end": null,
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"cdna_start": 712,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.395G>C",
"hgvs_p": "p.Gly132Ala",
"transcript": "XM_047439429.1",
"protein_id": "XP_047295385.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 495,
"cds_start": 395,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_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.-35G>C",
"hgvs_p": null,
"transcript": "ENST00000594467.5",
"protein_id": "ENSP00000471971.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": -4,
"cds_end": null,
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}
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}