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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: 6-143948404-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=143948404&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 143948404,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000674357.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001317162.2",
"protein_id": "NP_001304091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": "ENST00000674357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "ENST00000674357.1",
"protein_id": "ENSP00000501459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": "NM_001317162.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "ENST00000354765.6",
"protein_id": "ENSP00000346810.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "ENST00000367571.3",
"protein_id": "ENSP00000356543.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "ENST00000416623.5",
"protein_id": "ENSP00000400060.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "ENST00000444202.5",
"protein_id": "ENSP00000400929.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "ENST00000629195.2",
"protein_id": "ENSP00000486763.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 723,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-4-5741C>T",
"hgvs_p": null,
"transcript": "ENST00000367572.3",
"protein_id": "ENSP00000356544.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2496,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-4-5741C>T",
"hgvs_p": null,
"transcript": "ENST00000417959.4",
"protein_id": "ENSP00000395960.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-4-5741C>T",
"hgvs_p": null,
"transcript": "ENST00000437412.5",
"protein_id": "ENSP00000392418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2640,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-4-5741C>T",
"hgvs_p": null,
"transcript": "ENST00000626294.2",
"protein_id": "ENSP00000487447.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 593,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-4-5741C>T",
"hgvs_p": null,
"transcript": "ENST00000626373.2",
"protein_id": "ENSP00000486711.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 11,
"cds_start": -4,
"cds_end": null,
"cds_length": 36,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 333,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "n.402C>T",
"hgvs_p": null,
"transcript": "ENST00000626022.2",
"protein_id": null,
"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,
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"cdna_length": 559,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "n.415C>T",
"hgvs_p": null,
"transcript": "ENST00000628069.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"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
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "n.496C>T",
"hgvs_p": null,
"transcript": "ENST00000628630.2",
"protein_id": null,
"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,
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"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001080951.3",
"protein_id": "NP_001074420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001080952.3",
"protein_id": "NP_001074421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001080953.3",
"protein_id": "NP_001074422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001080954.3",
"protein_id": "NP_001074423.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001289042.2",
"protein_id": "NP_001275971.1",
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001289043.2",
"protein_id": "NP_001275972.1",
"transcript_support_level": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001289044.2",
"protein_id": "NP_001275973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAGL1",
"gene_hgnc_id": 9046,
"hgvs_c": "c.-268C>T",
"hgvs_p": null,
"transcript": "NM_001289045.2",
"protein_id": "NP_001275974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
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"cds_length": 1392,
"cdna_start": null,
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"cdna_length": 3537,
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],
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}
],
"message": null
}