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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: 19-47158236-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47158236&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47158236,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_005500.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "NM_005500.3",
"protein_id": "NP_005491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "ENST00000270225.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005500.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000270225.12",
"protein_id": "ENSP00000270225.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "NM_005500.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270225.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000906418.1",
"protein_id": "ENSP00000576477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000906417.1",
"protein_id": "ENSP00000576476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924104.1",
"protein_id": "ENSP00000594163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924102.1",
"protein_id": "ENSP00000594161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": null,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000906419.1",
"protein_id": "ENSP00000576478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924098.1",
"protein_id": "ENSP00000594157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.648+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924101.1",
"protein_id": "ENSP00000594160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000906414.1",
"protein_id": "ENSP00000576473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
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"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000965680.1",
"protein_id": "ENSP00000635739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
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"cds_length": 1029,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000965680.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "SAE1",
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"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924096.1",
"protein_id": "ENSP00000594155.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000924096.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "SAE1",
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"hgvs_c": "c.603+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000906416.1",
"protein_id": "ENSP00000576475.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 338,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000906416.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "SAE1",
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"hgvs_c": "c.582+3023G>C",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924099.1",
"protein_id": "ENSP00000594158.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "SAE1",
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"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "NM_001145713.2",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001145713.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000413379.7",
"protein_id": "ENSP00000416557.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000413379.7"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.453+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000924097.1",
"protein_id": "ENSP00000594156.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.627+3023G>C",
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"transcript": "NM_001145714.2",
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SAE1",
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"hgvs_c": "c.627+3023G>C",
"hgvs_p": null,
"transcript": "ENST00000392776.3",
"protein_id": "ENSP00000440818.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000392776.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SAE1",
"gene_hgnc_id": 30660,
"hgvs_c": "c.384+7861G>C",
"hgvs_p": null,
"transcript": "ENST00000598840.5",
"protein_id": "ENSP00000470741.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598840.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
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}