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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: 5-134163895-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134163895&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134163895,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_170679.3",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "NM_170679.3",
"protein_id": "NP_733779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000353411.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170679.3"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000353411.11",
"protein_id": "ENSP00000231487.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170679.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353411.11"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272772",
"gene_hgnc_id": null,
"hgvs_c": "c.274-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000519718.2",
"protein_id": "ENSP00000430774.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519718.2"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000522552.5",
"protein_id": "ENSP00000429472.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522552.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.241-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000880998.1",
"protein_id": "ENSP00000551057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880998.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.202-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000968701.1",
"protein_id": "ENSP00000638760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968701.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000517625.5",
"protein_id": "ENSP00000429961.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517625.5"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000521216.5",
"protein_id": "ENSP00000431067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521216.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000522855.5",
"protein_id": "ENSP00000429686.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522855.5"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000880996.1",
"protein_id": "ENSP00000551055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880996.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000880997.1",
"protein_id": "ENSP00000551056.1",
"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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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000880997.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "SKP1",
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"hgvs_c": "c.172-2765T>G",
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"transcript": "ENST00000881000.1",
"protein_id": "ENSP00000551059.1",
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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": "ENST00000881000.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
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"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000934651.1",
"protein_id": "ENSP00000604710.1",
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"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": "ENST00000934651.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "SKP1",
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"hgvs_c": "c.172-2765T>G",
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"transcript": "ENST00000934653.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000934654.1",
"protein_id": "ENSP00000604713.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934654.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SKP1",
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"hgvs_c": "c.172-2765T>G",
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"transcript": "ENST00000968700.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000934648.1",
"protein_id": "ENSP00000604707.1",
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"feature": "ENST00000934648.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "NM_006930.4",
"protein_id": "NP_008861.2",
"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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"biotype": "protein_coding",
"feature": "NM_006930.4"
},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "SKP1",
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"hgvs_c": "c.172-2774T>G",
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"transcript": "ENST00000934649.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
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"transcript": "ENST00000328392.10",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SKP1",
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"hgvs_c": "c.151-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000934652.1",
"protein_id": "ENSP00000604711.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000934652.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SKP1",
"gene_hgnc_id": 10899,
"hgvs_c": "c.172-2765T>G",
"hgvs_p": null,
"transcript": "ENST00000519321.5",
"protein_id": "ENSP00000429415.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
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"cds_length": 427,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519321.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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{
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}
],
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}