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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: 19-46755835-G-GTACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755835&ref=G&alt=GTACC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46755835,
"ref": "G",
"alt": "GTACC",
"effect": "frameshift_variant,stop_gained",
"transcript": "ENST00000318584.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": 131,
"aa_end": null,
"aa_length": 161,
"cds_start": 391,
"cds_end": null,
"cds_length": 487,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "ENST00000593902.1",
"protein_id": "ENSP00000470901.1",
"transcript_support_level": 4,
"aa_start": 131,
"aa_end": null,
"aa_length": 136,
"cds_start": 391,
"cds_end": null,
"cds_length": 411,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_005259247.3",
"protein_id": "XP_005259304.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_005259248.3",
"protein_id": "XP_005259305.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_005259249.5",
"protein_id": "XP_005259306.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 738,
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"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_011527306.3",
"protein_id": "XP_011525608.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_011527307.2",
"protein_id": "XP_011525609.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
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"cds_length": 1488,
"cdna_start": 587,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_017027297.3",
"protein_id": "XP_016882786.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
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"cdna_start": 896,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_024451707.2",
"protein_id": "XP_024307475.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
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"cdna_start": 598,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"stop_gained"
],
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"intron_rank": null,
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"gene_symbol": "FKRP",
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"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439421.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439422.1",
"protein_id": "XP_047295378.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
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"cds_start": 391,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "FKRP",
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"hgvs_c": "c.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439423.1",
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"cds_start": 391,
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"cdna_start": 790,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439424.1",
"protein_id": "XP_047295380.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
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"cdna_start": 1166,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439425.1",
"protein_id": "XP_047295381.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"strand": true,
"consequences": [
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"stop_gained"
],
"exon_rank": 4,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
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"hgvs_c": "c.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439426.1",
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},
{
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"strand": true,
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"frameshift_variant",
"stop_gained"
],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439427.1",
"protein_id": "XP_047295383.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439428.1",
"protein_id": "XP_047295384.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 495,
"cds_start": 391,
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"cdna_start": 708,
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"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "T*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"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.387_390dupACCT",
"hgvs_p": "p.Asp131fs",
"transcript": "XM_047439429.1",
"protein_id": "XP_047295385.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
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"cds_start": 391,
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"cdna_start": 541,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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}
],
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}