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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: 7-44122210-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44122210&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44122210,
"ref": "A",
"alt": "C",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001127218.3",
"consequences": [
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000452185.5",
"protein_id": "ENSP00000395231.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452185.5"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-56-101T>G",
"hgvs_p": null,
"transcript": "NM_006230.4",
"protein_id": "NP_006221.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610533.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006230.4"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-56-101T>G",
"hgvs_p": null,
"transcript": "ENST00000610533.6",
"protein_id": "ENSP00000480186.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006230.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610533.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000964235.1",
"protein_id": "ENSP00000634294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964235.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "NM_001127218.3",
"protein_id": "NP_001120690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127218.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000698945.1",
"protein_id": "ENSP00000514051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698945.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881300.1",
"protein_id": "ENSP00000551359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881300.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-46T>G",
"hgvs_p": null,
"transcript": "ENST00000964229.1",
"protein_id": "ENSP00000634288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964229.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000964230.1",
"protein_id": "ENSP00000634289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964230.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000964231.1",
"protein_id": "ENSP00000634290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964231.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000964234.1",
"protein_id": "ENSP00000634293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964234.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000698961.1",
"protein_id": "ENSP00000514060.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 465,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698961.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881315.1",
"protein_id": "ENSP00000551374.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000881315.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "POLD2",
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"transcript": "ENST00000881302.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881303.1",
"protein_id": "ENSP00000551362.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000881303.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "POLD2",
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"hgvs_c": "c.-157T>G",
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"transcript": "ENST00000881311.1",
"protein_id": "ENSP00000551370.1",
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"biotype": "protein_coding",
"feature": "ENST00000881311.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881313.1",
"protein_id": "ENSP00000551372.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000881313.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881318.1",
"protein_id": "ENSP00000551377.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000881318.1"
},
{
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"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
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"transcript": "ENST00000964237.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881320.1",
"protein_id": "ENSP00000551379.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "POLD2",
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"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000881308.1",
"protein_id": "ENSP00000551367.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 352,
"cds_start": null,
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"cds_length": 1059,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881308.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.-157T>G",
"hgvs_p": null,
"transcript": "ENST00000931685.1",
"protein_id": "ENSP00000601744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
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"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}