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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: 3-141260569-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=141260569&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 141260569,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000286353.9",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "NM_001037172.3",
"protein_id": "NP_001032249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000286353.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000286353.9",
"protein_id": "ENSP00000286353.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_001037172.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000393010.6",
"protein_id": "ENSP00000376733.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "NM_152282.5",
"protein_id": "NP_689495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.-134+315A>C",
"hgvs_p": null,
"transcript": "NM_001282728.2",
"protein_id": "NP_001269657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.-134+315A>C",
"hgvs_p": null,
"transcript": "ENST00000502783.5",
"protein_id": "ENSP00000422558.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000505013.5",
"protein_id": "ENSP00000421271.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000514680.5",
"protein_id": "ENSP00000426956.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "n.199+315A>C",
"hgvs_p": null,
"transcript": "ENST00000513007.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "n.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000513528.5",
"protein_id": "ENSP00000426348.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "n.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000514880.5",
"protein_id": "ENSP00000425264.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "PXYLP1",
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"hgvs_c": "n.79+315A>C",
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"transcript": "ENST00000636601.1",
"protein_id": "ENSP00000490861.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "PXYLP1",
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"hgvs_c": "n.79+315A>C",
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"transcript": "ENST00000637579.1",
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "n.79+315A>C",
"hgvs_p": null,
"transcript": "ENST00000637751.1",
"protein_id": "ENSP00000490743.1",
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},
{
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000287155",
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"hgvs_c": "n.173-9226T>G",
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"transcript": "ENST00000663611.1",
"protein_id": null,
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "XM_047449209.1",
"protein_id": "XP_047305165.1",
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},
{
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],
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"gene_symbol": "PXYLP1",
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"hgvs_c": "c.79+315A>C",
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"transcript": "XM_047449210.1",
"protein_id": "XP_047305166.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "XM_047449211.1",
"protein_id": "XP_047305167.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
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"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "XM_047449212.1",
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},
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],
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"gene_symbol": "PXYLP1",
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"transcript": "XM_047449213.1",
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},
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],
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"gene_symbol": "PXYLP1",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "XM_047449215.1",
"protein_id": "XP_047305171.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PXYLP1",
"gene_hgnc_id": 26303,
"hgvs_c": "c.79+315A>C",
"hgvs_p": null,
"transcript": "XM_047449216.1",
"protein_id": "XP_047305172.1",
"transcript_support_level": null,
"aa_start": null,
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},
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}