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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: 2-159944117-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159944117&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159944117,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_007366.5",
"consequences": [
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null,
"transcript": "NM_007366.5",
"protein_id": "NP_031392.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283243.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007366.5"
},
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null,
"transcript": "ENST00000283243.13",
"protein_id": "ENSP00000283243.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007366.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283243.13"
},
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4138+789T>C",
"hgvs_p": null,
"transcript": "NM_001195641.2",
"protein_id": "NP_001182570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": null,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195641.2"
},
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4138+789T>C",
"hgvs_p": null,
"transcript": "ENST00000890090.1",
"protein_id": "ENSP00000560149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": null,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890090.1"
},
{
"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": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4108+789T>C",
"hgvs_p": null,
"transcript": "ENST00000890093.1",
"protein_id": "ENSP00000560152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890093.1"
},
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4102+789T>C",
"hgvs_p": null,
"transcript": "ENST00000890094.1",
"protein_id": "ENSP00000560153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": null,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890094.1"
},
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4096+789T>C",
"hgvs_p": null,
"transcript": "ENST00000890091.1",
"protein_id": "ENSP00000560150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": null,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890091.1"
},
{
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.3814+789T>C",
"hgvs_p": null,
"transcript": "ENST00000890092.1",
"protein_id": "ENSP00000560151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": null,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890092.1"
},
{
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.2941+789T>C",
"hgvs_p": null,
"transcript": "ENST00000966629.1",
"protein_id": "ENSP00000636688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": null,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966629.1"
},
{
"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": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null,
"transcript": "XM_005246392.5",
"protein_id": "XP_005246449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246392.5"
},
{
"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": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null,
"transcript": "XM_011510820.4",
"protein_id": "XP_011509122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510820.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null,
"transcript": "XM_017003598.2",
"protein_id": "XP_016859087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003598.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null,
"transcript": "XM_047443729.1",
"protein_id": "XP_047299685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443729.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4138+789T>C",
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"transcript": "XM_047443730.1",
"protein_id": "XP_047299686.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443730.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.4145-407T>C",
"hgvs_p": null,
"transcript": "XM_017003599.2",
"protein_id": "XP_016859088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1383,
"cds_start": null,
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"cds_length": 4152,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003599.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.95+789T>C",
"hgvs_p": null,
"transcript": "ENST00000460710.2",
"protein_id": null,
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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,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460710.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.4356+789T>C",
"hgvs_p": null,
"transcript": "XR_001738671.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738671.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.4356+789T>C",
"hgvs_p": null,
"transcript": "XR_001738672.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"biotype": "pseudogene",
"feature": "XR_001738672.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.4356+789T>C",
"hgvs_p": null,
"transcript": "XR_007071491.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "XR_007071491.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.4356+789T>C",
"hgvs_p": null,
"transcript": "XR_007071492.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "XR_007071492.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.2459+789T>C",
"hgvs_p": null,
"transcript": "XR_007071493.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007071493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.2193+789T>C",
"hgvs_p": null,
"transcript": "XR_007071494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007071494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
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"transcript": "XR_922892.4",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_922892.4"
}
],
"gene_symbol": "PLA2R1",
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"dbsnp": "rs1995950",
"frequency_reference_population": 0.20131305,
"hom_count_reference_population": 3227,
"allele_count_reference_population": 30602,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.201313,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 30602,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3227,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.168,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_007366.5",
"gene_symbol": "PLA2R1",
"hgnc_id": 9042,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4144+789T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}