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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: 16-23641384-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23641384&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23641384,
"ref": "A",
"alt": "C",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000911404.1",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN5",
"gene_hgnc_id": 24594,
"hgvs_c": "c.-159A>C",
"hgvs_p": null,
"transcript": "ENST00000911404.1",
"protein_id": "ENSP00000581463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911404.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_024675.4",
"protein_id": "NP_078951.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261584.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024675.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "ENST00000261584.9",
"protein_id": "ENSP00000261584.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024675.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261584.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN5",
"gene_hgnc_id": 24594,
"hgvs_c": "c.-159A>C",
"hgvs_p": null,
"transcript": "NM_032486.4",
"protein_id": "NP_115875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300087.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032486.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN5",
"gene_hgnc_id": 24594,
"hgvs_c": "c.-159A>C",
"hgvs_p": null,
"transcript": "ENST00000300087.7",
"protein_id": "ENSP00000300087.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032486.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300087.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-1095T>G",
"hgvs_p": null,
"transcript": "ENST00000568219.5",
"protein_id": "ENSP00000454703.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": null,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568219.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-1079T>G",
"hgvs_p": null,
"transcript": "ENST00000561514.3",
"protein_id": "ENSP00000460666.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": null,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561514.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-372T>G",
"hgvs_p": null,
"transcript": "ENST00000697379.2",
"protein_id": "ENSP00000513287.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": null,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697379.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407296.1",
"protein_id": "NP_001394225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1166,
"cds_start": null,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407297.1",
"protein_id": "NP_001394226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": null,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "ENST00000970391.1",
"protein_id": "ENSP00000640450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": null,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-466T>G",
"hgvs_p": null,
"transcript": "ENST00000697377.2",
"protein_id": "ENSP00000513286.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": null,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697377.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407298.1",
"protein_id": "NP_001394227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": null,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "ENST00000916249.1",
"protein_id": "ENSP00000586308.1",
"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": "ENST00000916249.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407299.1",
"protein_id": "NP_001394228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407299.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "ENST00000713774.1",
"protein_id": "ENSP00000519076.1",
"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": "ENST00000713774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407300.1",
"protein_id": "NP_001394229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407300.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "ENST00000916250.1",
"protein_id": "ENSP00000586309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916250.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407301.1",
"protein_id": "NP_001394230.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407301.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "ENST00000566069.6",
"protein_id": "ENSP00000459237.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": 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": "protein_coding",
"feature": "ENST00000566069.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-227T>G",
"hgvs_p": null,
"transcript": "NM_001407302.1",
"protein_id": "NP_001394231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": null,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-1970T>G",
"hgvs_p": null,
"transcript": "NM_001407304.1",
"protein_id": "NP_001394233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": null,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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},
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},
{
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],
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},
{
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],
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"gene_symbol": "DCTN5",
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"biotype": "pseudogene",
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},
{
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],
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"gene_symbol": "DCTN5",
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"transcript": "XR_001752006.3",
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},
{
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],
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"gene_symbol": "DCTN5",
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"transcript": "XR_001752007.3",
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"biotype": "pseudogene",
"feature": "XR_001752007.3"
}
],
"gene_symbol": "DCTN5",
"gene_hgnc_id": 24594,
"dbsnp": "rs515726055",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.039,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000911404.1",
"gene_symbol": "DCTN5",
"hgnc_id": 24594,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-159A>C",
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},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_024675.4",
"gene_symbol": "PALB2",
"hgnc_id": 26144,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-227T>G",
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}
],
"clinvar_disease": "Familial cancer of breast",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Familial cancer of breast",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}