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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: 16-53703813-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53703813&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53703813,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_015272.5",
"consequences": [
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "NM_015272.5",
"protein_id": "NP_056087.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": -4,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "ENST00000647211.2",
"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": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000647211.2",
"protein_id": "ENSP00000493946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": -4,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "NM_015272.5",
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000563746.5",
"protein_id": "ENSP00000457889.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": -4,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4193,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000621565.5",
"protein_id": "ENSP00000480698.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1269,
"cds_start": -4,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6678,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-14C>T",
"hgvs_p": null,
"transcript": "ENST00000562230.5",
"protein_id": "ENSP00000455295.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1107,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000568653.7",
"protein_id": "ENSP00000455451.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2429,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000679110.1",
"protein_id": "ENSP00000502853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"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": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000680193.1",
"protein_id": "ENSP00000506379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6903,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.26C>T",
"hgvs_p": null,
"transcript": "ENST00000680907.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1816,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.47C>T",
"hgvs_p": null,
"transcript": "XR_007064860.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.47C>T",
"hgvs_p": null,
"transcript": "XR_007064861.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4023,
"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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.47C>T",
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"transcript": "XR_007064862.1",
"protein_id": 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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.47C>T",
"hgvs_p": null,
"transcript": "XR_933260.4",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "NM_001330538.2",
"protein_id": "NP_001317467.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "NM_001308334.3",
"protein_id": "NP_001295263.1",
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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": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
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"transcript": "ENST00000564374.5",
"protein_id": "ENSP00000456534.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "NM_001127897.4",
"protein_id": "NP_001121369.1",
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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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000262135.9",
"protein_id": "ENSP00000262135.4",
"transcript_support_level": 5,
"aa_start": null,
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"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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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "NM_001328422.2",
"protein_id": "NP_001315351.1",
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},
{
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
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"hgvs_c": "c.-266C>T",
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"transcript": "ENST00000562588.5",
"protein_id": "ENSP00000459817.1",
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},
{
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"protein_coding": true,
"strand": false,
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"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
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"transcript": "NM_001328423.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000566096.5",
"protein_id": "ENSP00000458705.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000679110.1",
"protein_id": "ENSP00000502853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.545,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015272.5",
"gene_symbol": "RPGRIP1L",
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"effects": [
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"inheritance_mode": "AR",
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},
{
"score": -4,
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"criteria": [
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636491.1",
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"effects": [
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}