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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: 12-56172427-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56172427&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56172427,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001330288.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1926+1G>A",
"hgvs_p": null,
"transcript": "NM_001330288.2",
"protein_id": "NP_001317217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1245,
"cds_start": null,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000550164.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330288.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1926+1G>A",
"hgvs_p": null,
"transcript": "ENST00000550164.6",
"protein_id": "ENSP00000449396.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1245,
"cds_start": null,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330288.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550164.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1833+1G>A",
"hgvs_p": null,
"transcript": "ENST00000267064.8",
"protein_id": "ENSP00000267064.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": null,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267064.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1926+1G>A",
"hgvs_p": null,
"transcript": "ENST00000394023.7",
"protein_id": "ENSP00000377591.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394023.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1926+1G>A",
"hgvs_p": null,
"transcript": "ENST00000347471.8",
"protein_id": "ENSP00000302919.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347471.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1833+1G>A",
"hgvs_p": null,
"transcript": "ENST00000939454.1",
"protein_id": "ENSP00000609513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1297,
"cds_start": null,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1833+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866392.1",
"protein_id": "ENSP00000536451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1290,
"cds_start": null,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1959+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866397.1",
"protein_id": "ENSP00000536456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": null,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1923+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866393.1",
"protein_id": "ENSP00000536452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1833+1G>A",
"hgvs_p": null,
"transcript": "NM_003075.5",
"protein_id": "NP_003066.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": null,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003075.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1761+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866391.1",
"protein_id": "ENSP00000536450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1713+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866394.1",
"protein_id": "ENSP00000536453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": null,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.2052+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866396.1",
"protein_id": "ENSP00000536455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": null,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866396.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1926+1G>A",
"hgvs_p": null,
"transcript": "NM_001130420.3",
"protein_id": "NP_001123892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
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"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130420.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1959+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866398.1",
"protein_id": "ENSP00000536457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"cds_start": null,
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"cds_length": 3426,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866398.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1956+1G>A",
"hgvs_p": null,
"transcript": "ENST00000941977.1",
"protein_id": "ENSP00000612036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": null,
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"cds_length": 3423,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1926+1G>A",
"hgvs_p": null,
"transcript": "NM_139067.4",
"protein_id": "NP_620706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139067.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1842+1G>A",
"hgvs_p": null,
"transcript": "ENST00000941982.1",
"protein_id": "ENSP00000612041.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941982.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1830+1G>A",
"hgvs_p": null,
"transcript": "ENST00000866390.1",
"protein_id": "ENSP00000536449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866390.1"
},
{
"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": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1744-490G>A",
"hgvs_p": null,
"transcript": "ENST00000941979.1",
"protein_id": "ENSP00000612038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 3210,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1713+1G>A",
"hgvs_p": null,
"transcript": "ENST00000941981.1",
"protein_id": "ENSP00000612040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1059,
"cds_start": null,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.1704+1G>A",
"hgvs_p": null,
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}