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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: 2-159434566-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159434566&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159434566,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000392783.7",
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "NM_013450.4",
"protein_id": "NP_038478.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": -4,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": "ENST00000392783.7",
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000392783.7",
"protein_id": "ENSP00000376534.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2168,
"cds_start": -4,
"cds_end": null,
"cds_length": 6507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": "NM_013450.4",
"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": 36,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000392782.5",
"protein_id": "ENSP00000376533.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2132,
"cds_start": -4,
"cds_end": null,
"cds_length": 6399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "n.988G>A",
"hgvs_p": null,
"transcript": "ENST00000472953.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 4206,
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "ENST00000718451.1",
"protein_id": "ENSP00000520831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2160,
"cds_start": -4,
"cds_end": null,
"cds_length": 6483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7026,
"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": 37,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1105-1203G>A",
"hgvs_p": null,
"transcript": "NM_001329857.2",
"protein_id": "NP_001316786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2149,
"cds_start": -4,
"cds_end": null,
"cds_length": 6450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8088,
"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": 37,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "NM_001329858.2",
"protein_id": "NP_001316787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2143,
"cds_start": -4,
"cds_end": null,
"cds_length": 6432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7935,
"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": 36,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1288-1203G>A",
"hgvs_p": null,
"transcript": "NM_001289975.1",
"protein_id": "NP_001276904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2132,
"cds_start": -4,
"cds_end": null,
"cds_length": 6399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8090,
"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": 37,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1345-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444037.1",
"protein_id": "XP_047299993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2248,
"cds_start": -4,
"cds_end": null,
"cds_length": 6747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7872,
"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": 39,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_005246488.3",
"protein_id": "XP_005246545.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2242,
"cds_start": -4,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
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"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_005246489.5",
"protein_id": "XP_005246546.2",
"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": 44,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
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"hgvs_c": "c.1294-1203G>A",
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"transcript": "XM_017003920.2",
"protein_id": "XP_016859409.1",
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444038.1",
"protein_id": "XP_047299994.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
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"transcript": "XM_047444039.1",
"protein_id": "XP_047299995.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 11,
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"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444040.1",
"protein_id": "XP_047299996.1",
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
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"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444041.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "BAZ2B",
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"hgvs_c": "c.1294-1203G>A",
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"transcript": "XM_047444042.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444043.1",
"protein_id": "XP_047299999.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
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"transcript": "XM_047444044.1",
"protein_id": "XP_047300000.1",
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],
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"intron_rank": 11,
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"gene_symbol": "BAZ2B",
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"hgvs_c": "c.1294-1203G>A",
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},
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],
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"intron_rank": 11,
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"gene_symbol": "BAZ2B",
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"hgvs_c": "c.1294-1203G>A",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444047.1",
"protein_id": "XP_047300003.1",
"transcript_support_level": null,
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"cds_start": -4,
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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,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.1294-1203G>A",
"hgvs_p": null,
"transcript": "XM_047444048.1",
"protein_id": "XP_047300004.1",
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}
],
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}