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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: 9-131603630-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131603630&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131603630,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001377935.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2412+331T>C",
"hgvs_p": null,
"transcript": "NM_001377935.1",
"protein_id": "NP_001364864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1263,
"cds_start": null,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683357.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377935.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2412+331T>C",
"hgvs_p": null,
"transcript": "ENST00000683357.1",
"protein_id": "ENSP00000508246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1263,
"cds_start": null,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377935.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1909-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000372190.8",
"protein_id": "ENSP00000361264.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1095,
"cds_start": null,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372190.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1906-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000372195.5",
"protein_id": "ENSP00000361269.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": null,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372195.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1855-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000372189.7",
"protein_id": "ENSP00000361263.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": null,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372189.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2415+331T>C",
"hgvs_p": null,
"transcript": "ENST00000958091.1",
"protein_id": "ENSP00000628150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": null,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2322+1301T>C",
"hgvs_p": null,
"transcript": "ENST00000958090.1",
"protein_id": "ENSP00000628149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": null,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958090.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2319+1301T>C",
"hgvs_p": null,
"transcript": "ENST00000958092.1",
"protein_id": "ENSP00000628151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1232,
"cds_start": null,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2301+331T>C",
"hgvs_p": null,
"transcript": "NM_001377938.1",
"protein_id": "NP_001364867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377938.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2163+1301T>C",
"hgvs_p": null,
"transcript": "ENST00000914831.1",
"protein_id": "ENSP00000584890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1180,
"cds_start": null,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2065-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000914832.1",
"protein_id": "ENSP00000584891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": null,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1930-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000914830.1",
"protein_id": "ENSP00000584889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1102,
"cds_start": null,
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"cds_length": 3309,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914830.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1909-1481T>C",
"hgvs_p": null,
"transcript": "NM_198679.2",
"protein_id": "NP_941372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1095,
"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": "NM_198679.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1906-1481T>C",
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"transcript": "NM_001304275.2",
"protein_id": "NP_001291204.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001304275.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1903-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000914834.1",
"protein_id": "ENSP00000584893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914834.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 11,
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"gene_symbol": "RAPGEF1",
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"hgvs_c": "c.1906-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000914829.1",
"protein_id": "ENSP00000584888.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914829.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1855-1481T>C",
"hgvs_p": null,
"transcript": "NM_005312.4",
"protein_id": "NP_005303.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": null,
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"cds_length": 3234,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005312.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1851+331T>C",
"hgvs_p": null,
"transcript": "NM_001377936.1",
"protein_id": "NP_001364865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377936.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1816-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000914835.1",
"protein_id": "ENSP00000584894.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000914835.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1792-1481T>C",
"hgvs_p": null,
"transcript": "NM_001377937.1",
"protein_id": "NP_001364866.1",
"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",
"feature": "NM_001377937.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.1546-1481T>C",
"hgvs_p": null,
"transcript": "ENST00000914833.1",
"protein_id": "ENSP00000584892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": null,
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"cds_length": 2925,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.135+331T>C",
"hgvs_p": null,
"transcript": "ENST00000414781.1",
"protein_id": "ENSP00000407210.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414781.1"
},
{
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"canonical": false,
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