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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: 16-53619190-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53619190&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53619190,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015272.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3451A>T",
"hgvs_p": "p.Ile1151Phe",
"transcript": "NM_015272.5",
"protein_id": "NP_056087.2",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3451,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647211.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015272.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3451A>T",
"hgvs_p": "p.Ile1151Phe",
"transcript": "ENST00000647211.2",
"protein_id": "ENSP00000493946.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3451,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647211.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3349A>T",
"hgvs_p": "p.Ile1117Phe",
"transcript": "ENST00000563746.5",
"protein_id": "ENSP00000457889.1",
"transcript_support_level": 1,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563746.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3313A>T",
"hgvs_p": "p.Ile1105Phe",
"transcript": "ENST00000621565.5",
"protein_id": "ENSP00000480698.1",
"transcript_support_level": 1,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621565.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3349A>T",
"hgvs_p": "p.Ile1117Phe",
"transcript": "NM_001330538.2",
"protein_id": "NP_001317467.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330538.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3325A>T",
"hgvs_p": "p.Ile1109Phe",
"transcript": "ENST00000944945.1",
"protein_id": "ENSP00000615004.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944945.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3313A>T",
"hgvs_p": "p.Ile1105Phe",
"transcript": "NM_001308334.3",
"protein_id": "NP_001295263.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308334.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3313A>T",
"hgvs_p": "p.Ile1105Phe",
"transcript": "ENST00000564374.5",
"protein_id": "ENSP00000456534.1",
"transcript_support_level": 2,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564374.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3211A>T",
"hgvs_p": "p.Ile1071Phe",
"transcript": "NM_001127897.4",
"protein_id": "NP_001121369.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127897.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3211A>T",
"hgvs_p": "p.Ile1071Phe",
"transcript": "ENST00000262135.9",
"protein_id": "ENSP00000262135.4",
"transcript_support_level": 5,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262135.9"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3127A>T",
"hgvs_p": "p.Ile1043Phe",
"transcript": "ENST00000935860.1",
"protein_id": "ENSP00000605919.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3127,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935860.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3463A>T",
"hgvs_p": "p.Ile1155Phe",
"transcript": "XM_047433869.1",
"protein_id": "XP_047289825.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3463,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433869.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3451A>T",
"hgvs_p": "p.Ile1151Phe",
"transcript": "XM_047433870.1",
"protein_id": "XP_047289826.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3451,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433870.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3349A>T",
"hgvs_p": "p.Ile1117Phe",
"transcript": "XM_047433871.1",
"protein_id": "XP_047289827.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433871.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3325A>T",
"hgvs_p": "p.Ile1109Phe",
"transcript": "XM_005255868.3",
"protein_id": "XP_005255925.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255868.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3223A>T",
"hgvs_p": "p.Ile1075Phe",
"transcript": "XM_017023095.3",
"protein_id": "XP_016878584.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023095.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.3211A>T",
"hgvs_p": "p.Ile1071Phe",
"transcript": "XM_047433872.1",
"protein_id": "XP_047289828.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433872.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1696A>T",
"hgvs_p": "p.Ile566Phe",
"transcript": "XM_017023098.2",
"protein_id": "XP_016878587.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 730,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023098.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1696A>T",
"hgvs_p": "p.Ile566Phe",
"transcript": "XM_017023099.2",
"protein_id": "XP_016878588.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 730,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023099.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.3875A>T",
"hgvs_p": null,
"transcript": "ENST00000565343.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565343.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.*211A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680193.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1223A>T",
"hgvs_p": null,
"transcript": "ENST00000681587.1",
"protein_id": null,
"transcript_support_level": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.963,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_015272.5",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Ile1151Phe"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}