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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: 20-41185089-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=41185089&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 41185089,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000683867.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Pro916Leu",
"transcript": "ENST00000544979.6",
"protein_id": "ENSP00000443783.2",
"transcript_support_level": 1,
"aa_start": 916,
"aa_end": null,
"aa_length": 969,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384317.1",
"protein_id": "NP_001371246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10074,
"mane_select": "ENST00000683867.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000683867.1",
"protein_id": "ENSP00000506788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10074,
"mane_select": "NM_001384317.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000559234.5",
"protein_id": "ENSP00000452965.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000560361.5",
"protein_id": "ENSP00000454006.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*162C>T",
"hgvs_p": null,
"transcript": "ENST00000421422.1",
"protein_id": "ENSP00000405421.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Pro916Leu",
"transcript": "NM_001384324.1",
"protein_id": "NP_001371253.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 969,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 9844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000558993.1",
"protein_id": "ENSP00000454208.2",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 315,
"cds_start": 785,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000560364.5",
"protein_id": "ENSP00000453647.2",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 315,
"cds_start": 785,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 4283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"transcript": "ENST00000559436.2",
"protein_id": "ENSP00000453310.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 127,
"cds_start": 221,
"cds_end": null,
"cds_length": 384,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Pro916Leu",
"transcript": "XM_005260341.5",
"protein_id": "XP_005260398.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 969,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 9780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Pro916Leu",
"transcript": "XM_047440044.1",
"protein_id": "XP_047296000.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 969,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3560,
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"cdna_length": 10194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*162C>T",
"hgvs_p": null,
"transcript": "NM_001384325.1",
"protein_id": "NP_001371254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384315.1",
"protein_id": "NP_001371244.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384316.1",
"protein_id": "NP_001371245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384318.1",
"protein_id": "NP_001371247.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384319.1",
"protein_id": "NP_001371248.1",
"transcript_support_level": null,
"aa_start": 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": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384320.1",
"protein_id": "NP_001371249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_001384321.1",
"protein_id": "NP_001371250.1",
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
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"hgvs_c": "c.*102C>T",
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"transcript": "NM_001384322.1",
"protein_id": "NP_001371251.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
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"transcript": "NM_001384323.1",
"protein_id": "NP_001371252.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "NM_015035.4",
"protein_id": "NP_055850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 10006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZHX3",
"gene_hgnc_id": 15935,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000309060.7",
"protein_id": "ENSP00000312222.4",
"transcript_support_level": 5,
"aa_start": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}