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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: 16-53652977-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53652977&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53652977,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "ENST00000647211.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "NM_015272.5",
"protein_id": "NP_056087.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "ENST00000647211.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "ENST00000647211.2",
"protein_id": "ENSP00000493946.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "NM_015272.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "ENST00000563746.5",
"protein_id": "ENSP00000457889.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "ENST00000621565.5",
"protein_id": "ENSP00000480698.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "NM_001330538.2",
"protein_id": "NP_001317467.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "NM_001308334.3",
"protein_id": "NP_001295263.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "ENST00000564374.5",
"protein_id": "ENSP00000456534.1",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "NM_001127897.4",
"protein_id": "NP_001121369.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "ENST00000262135.9",
"protein_id": "ENSP00000262135.4",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 7725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_047433869.1",
"protein_id": "XP_047289825.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1319,
"cds_start": 1721,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "XM_047433870.1",
"protein_id": "XP_047289826.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 8183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "XM_047433871.1",
"protein_id": "XP_047289827.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 8081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_005255868.3",
"protein_id": "XP_005255925.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1721,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_017023095.3",
"protein_id": "XP_016878584.1",
"transcript_support_level": null,
"aa_start": 574,
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"aa_length": 1239,
"cds_start": 1721,
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"cdna_start": 1785,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "XM_047433872.1",
"protein_id": "XP_047289828.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "XM_047433873.1",
"protein_id": "XP_047289829.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1709,
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"cdna_start": 1773,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_011522970.3",
"protein_id": "XP_011521272.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1721,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "XM_047433874.1",
"protein_id": "XP_047289830.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1709,
"cds_end": null,
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"cdna_start": 1773,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_011522971.4",
"protein_id": "XP_011521273.1",
"transcript_support_level": null,
"aa_start": 574,
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"cdna_start": 1785,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_047433875.1",
"protein_id": "XP_047289831.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1721,
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"cdna_start": 1785,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1721dupA",
"hgvs_p": "p.Asp575fs",
"transcript": "XM_011522973.4",
"protein_id": "XP_011521275.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1721,
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"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1709dupA",
"hgvs_p": "p.Asp571fs",
"transcript": "XM_047433876.1",
"protein_id": "XP_047289832.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1709,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
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{
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"clinvar_disease": " type 5,COACH syndrome 3,Joubert syndrome,Joubert syndrome 7,Meckel syndrome,Meckel-Gruber syndrome,RPGRIP1L-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Meckel-Gruber syndrome;Joubert syndrome|Joubert syndrome 7|not provided|Joubert syndrome|Joubert syndrome 7;COACH syndrome 3;Meckel syndrome, type 5|RPGRIP1L-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}