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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: 6-121280619-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=121280619&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 121280619,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000464622.5",
"consequences": [
{
"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": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "NM_152730.6",
"protein_id": "NP_689943.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": "ENST00000398212.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "ENST00000398212.7",
"protein_id": "ENSP00000381270.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": "NM_152730.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "ENST00000275159.11",
"protein_id": "ENSP00000275159.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": -4,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.*1299+925G>A",
"hgvs_p": null,
"transcript": "ENST00000464622.5",
"protein_id": "ENSP00000428839.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "NM_001367759.1",
"protein_id": "NP_001354688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": -4,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "NM_001367760.1",
"protein_id": "NP_001354689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": -4,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "n.1676+925G>A",
"hgvs_p": null,
"transcript": "NR_104452.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 35,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "XM_011535570.2",
"protein_id": "XP_011533872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": -4,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 35,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "XM_011535571.4",
"protein_id": "XP_011533873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": -4,
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"cds_length": 3960,
"cdna_start": null,
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"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 15,
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"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.1608+925G>A",
"hgvs_p": null,
"transcript": "XM_017010398.3",
"protein_id": "XP_016865887.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 14,
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"gene_symbol": "TBC1D32",
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"hgvs_c": "c.1608+925G>A",
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"transcript": "XM_047418309.1",
"protein_id": "XP_047274265.1",
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},
{
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"consequences": [
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],
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},
{
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],
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"gene_symbol": "TBC1D32",
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},
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],
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"gene_symbol": "TBC1D32",
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],
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},
{
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],
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"gene_symbol": "TBC1D32",
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],
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"gene_symbol": "TBC1D32",
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},
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],
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"gene_symbol": "TBC1D32",
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"hgvs_c": "c.1608+925G>A",
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],
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},
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],
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"gene_symbol": "TBC1D32",
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"hgvs_c": "c.1608+925G>A",
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"protein_id": "XP_016865892.1",
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},
{
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"consequences": [
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],
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"exon_count": 25,
"intron_rank": 5,
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"gene_symbol": "TBC1D32",
"gene_hgnc_id": 21485,
"hgvs_c": "c.429+925G>A",
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"transcript": "XM_011535580.3",
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}
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}