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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: 19-12891221-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12891221&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12891221,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_000159.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000591470.5",
"protein_id": "ENSP00000466845.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "NM_000159.4",
"protein_id": "NP_000150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "ENST00000222214.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000222214.10",
"protein_id": "ENSP00000222214.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "NM_000159.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.23+19C>G",
"hgvs_p": null,
"transcript": "ENST00000590627.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000714074.1",
"protein_id": "ENSP00000519365.1",
"transcript_support_level": null,
"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": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.-84C>G",
"hgvs_p": null,
"transcript": "ENST00000714074.1",
"protein_id": "ENSP00000519365.1",
"transcript_support_level": null,
"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": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714069.1",
"protein_id": "ENSP00000519360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714068.1",
"protein_id": "ENSP00000519359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000587072.2",
"protein_id": "ENSP00000468584.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000591050.2",
"protein_id": "ENSP00000467735.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714067.1",
"protein_id": "ENSP00000519358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714070.1",
"protein_id": "ENSP00000519361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
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"cds_length": 1320,
"cdna_start": null,
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"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000590472.6",
"protein_id": "ENSP00000468625.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
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"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714075.1",
"protein_id": "ENSP00000519366.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 429,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "NM_013976.5",
"protein_id": "NP_039663.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 428,
"cds_start": -4,
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"cds_length": 1287,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714073.1",
"protein_id": "ENSP00000519364.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 428,
"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000588905.6",
"protein_id": "ENSP00000465770.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 426,
"cds_start": -4,
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"cds_length": 1281,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000714072.1",
"protein_id": "ENSP00000519363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.43+19C>G",
"hgvs_p": null,
"transcript": "ENST00000421816.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.23+19C>G",
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"transcript": "ENST00000585420.5",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.23+19C>G",
"hgvs_p": null,
"transcript": "ENST00000587832.5",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000589039.6",
"protein_id": "ENSP00000465618.1",
"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,
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"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "n.-35+19C>G",
"hgvs_p": null,
"transcript": "ENST00000590445.5",
"protein_id": "ENSP00000468125.1",
"transcript_support_level": 4,
"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": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
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{
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"clinvar_disease": "",
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}
],
"message": null
}