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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: 20-447946-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=447946&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 447946,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144628.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "NM_144628.4",
"protein_id": "NP_653229.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 403,
"cds_start": 199,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": "ENST00000354200.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144628.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000354200.5",
"protein_id": "ENSP00000346139.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 403,
"cds_start": 199,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": "NM_144628.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354200.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.199C>G",
"hgvs_p": null,
"transcript": "ENST00000461304.5",
"protein_id": "ENSP00000432280.1",
"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": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461304.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000679895.1",
"protein_id": "ENSP00000505197.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 435,
"cds_start": 199,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679895.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000951242.1",
"protein_id": "ENSP00000621301.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 411,
"cds_start": 199,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951242.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000681539.1",
"protein_id": "ENSP00000505557.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 403,
"cds_start": 199,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681539.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000893233.1",
"protein_id": "ENSP00000563292.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 396,
"cds_start": 199,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893233.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000893231.1",
"protein_id": "ENSP00000563290.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 379,
"cds_start": 199,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893231.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000681551.1",
"protein_id": "ENSP00000504974.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 378,
"cds_start": 199,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681551.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000681414.1",
"protein_id": "ENSP00000505797.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 376,
"cds_start": 199,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681414.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000951243.1",
"protein_id": "ENSP00000621302.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 372,
"cds_start": 199,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.71-2816C>G",
"hgvs_p": null,
"transcript": "ENST00000680050.1",
"protein_id": "ENSP00000505464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.71-2816C>G",
"hgvs_p": null,
"transcript": "ENST00000681129.1",
"protein_id": "ENSP00000505329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681129.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.71-2816C>G",
"hgvs_p": null,
"transcript": "ENST00000951241.1",
"protein_id": "ENSP00000621300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.71-2816C>G",
"hgvs_p": null,
"transcript": "ENST00000951244.1",
"protein_id": "ENSP00000621303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.71-2816C>G",
"hgvs_p": null,
"transcript": "ENST00000893232.1",
"protein_id": "ENSP00000563291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": null,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "c.71-5903C>G",
"hgvs_p": null,
"transcript": "ENST00000932929.1",
"protein_id": "ENSP00000602988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.155C>G",
"hgvs_p": null,
"transcript": "ENST00000461188.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 5541,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461188.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.337C>G",
"hgvs_p": null,
"transcript": "ENST00000494633.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.298C>G",
"hgvs_p": null,
"transcript": "ENST00000679451.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.199C>G",
"hgvs_p": null,
"transcript": "ENST00000679741.1",
"protein_id": "ENSP00000504904.1",
"transcript_support_level": null,
"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": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D20",
"gene_hgnc_id": 16133,
"hgvs_c": "n.199C>G",
"hgvs_p": null,
"transcript": "ENST00000679944.1",
"protein_id": "ENSP00000506278.1",
"transcript_support_level": null,
"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": 2846,
"mane_select": null,
"mane_plus": null,
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