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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: 3-15644322-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15644322&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15644322,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000643237.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001370658.1",
"protein_id": "NP_001357587.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "ENST00000643237.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "ENST00000643237.3",
"protein_id": "ENSP00000495254.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "NM_001370658.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "ENST00000303498.10",
"protein_id": "ENSP00000306477.6",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001281723.4",
"protein_id": "NP_001268652.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 9840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001281724.3",
"protein_id": "NP_001268653.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001281725.3",
"protein_id": "NP_001268654.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001323582.2",
"protein_id": "NP_001310511.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 10240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407364.1",
"protein_id": "NP_001394293.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 9928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407365.1",
"protein_id": "NP_001394294.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 10101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407366.1",
"protein_id": "NP_001394295.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407367.1",
"protein_id": "NP_001394296.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 10116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407368.1",
"protein_id": "NP_001394297.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 10499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407369.1",
"protein_id": "NP_001394298.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 10515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407370.1",
"protein_id": "NP_001394299.1",
"transcript_support_level": null,
"aa_start": 136,
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"cdna_start": 1000,
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"feature": null
},
{
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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,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407371.1",
"protein_id": "NP_001394300.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 10566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407372.1",
"protein_id": "NP_001394301.1",
"transcript_support_level": null,
"aa_start": 136,
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"cdna_start": 729,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407373.1",
"protein_id": "NP_001394302.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
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"cdna_start": 691,
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"cdna_length": 10083,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407374.1",
"protein_id": "NP_001394303.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407375.1",
"protein_id": "NP_001394304.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
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"cds_start": 406,
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"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407376.1",
"protein_id": "NP_001394305.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
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"cdna_start": 1194,
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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,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407377.1",
"protein_id": "NP_001394306.1",
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"cds_start": 406,
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"cdna_start": 1006,
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"cdna_length": 10398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "NM_001407378.1",
"protein_id": "NP_001394307.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 523,
"cds_start": 406,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 10341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.406C>A",
"hgvs_p": "p.Gln136Lys",
"transcript": "ENST00000427382.2",
"protein_id": "ENSP00000397113.2",
"transcript_support_level": 4,
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