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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: 16-53686570-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53686570&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53686570,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000647211.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "NM_015272.5",
"protein_id": "NP_056087.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1315,
"cds_start": 639,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "ENST00000647211.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "ENST00000647211.2",
"protein_id": "ENSP00000493946.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1315,
"cds_start": 639,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "NM_015272.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "ENST00000563746.5",
"protein_id": "ENSP00000457889.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 1281,
"cds_start": 639,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "ENST00000621565.5",
"protein_id": "ENSP00000480698.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 1269,
"cds_start": 639,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "ENST00000562230.5",
"protein_id": "ENSP00000455295.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 353,
"cds_start": 639,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "NM_001330538.2",
"protein_id": "NP_001317467.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1281,
"cds_start": 639,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "NM_001308334.3",
"protein_id": "NP_001295263.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1269,
"cds_start": 639,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "ENST00000564374.5",
"protein_id": "ENSP00000456534.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 1253,
"cds_start": 639,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "NM_001127897.4",
"protein_id": "NP_001121369.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1235,
"cds_start": 639,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "ENST00000262135.9",
"protein_id": "ENSP00000262135.4",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 1235,
"cds_start": 639,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 7725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433869.1",
"protein_id": "XP_047289825.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1319,
"cds_start": 639,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433870.1",
"protein_id": "XP_047289826.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1315,
"cds_start": 639,
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"cds_length": 3948,
"cdna_start": 951,
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"cdna_length": 8183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433871.1",
"protein_id": "XP_047289827.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1281,
"cds_start": 639,
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"cds_length": 3846,
"cdna_start": 951,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_005255868.3",
"protein_id": "XP_005255925.1",
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"cdna_start": 703,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_017023095.3",
"protein_id": "XP_016878584.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1239,
"cds_start": 639,
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"cdna_start": 703,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433872.1",
"protein_id": "XP_047289828.1",
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"cdna_start": 951,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433873.1",
"protein_id": "XP_047289829.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1131,
"cds_start": 639,
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"cdna_start": 703,
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"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_011522970.3",
"protein_id": "XP_011521272.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1128,
"cds_start": 639,
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"cdna_start": 703,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433874.1",
"protein_id": "XP_047289830.1",
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"cdna_start": 703,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_011522971.4",
"protein_id": "XP_011521273.1",
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"aa_start": 213,
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"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_047433875.1",
"protein_id": "XP_047289831.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1112,
"cds_start": 639,
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"cdna_start": 703,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Asn213Lys",
"transcript": "XM_011522973.4",
"protein_id": "XP_011521275.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1108,
"cds_start": 639,
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"cdna_start": 703,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
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"clinvar_review_status": "criteria provided, single submitter",
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}
],
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}