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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: 11-31791253-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31791253&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31791253,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000640368.2",
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1075-393G>T",
"hgvs_p": null,
"transcript": "NM_001368894.2",
"protein_id": "NP_001355823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "ENST00000640368.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1075-393G>T",
"hgvs_p": null,
"transcript": "ENST00000640368.2",
"protein_id": "ENSP00000492024.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "NM_001368894.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1075-393G>T",
"hgvs_p": null,
"transcript": "ENST00000419022.6",
"protein_id": "ENSP00000404100.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1075-393G>T",
"hgvs_p": null,
"transcript": "ENST00000638914.3",
"protein_id": "ENSP00000492315.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1075-393G>T",
"hgvs_p": null,
"transcript": "ENST00000639409.1",
"protein_id": "ENSP00000492476.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1075-393G>T",
"hgvs_p": null,
"transcript": "ENST00000640975.1",
"protein_id": "ENSP00000491872.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1033-393G>T",
"hgvs_p": null,
"transcript": "ENST00000241001.13",
"protein_id": "ENSP00000241001.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1033-393G>T",
"hgvs_p": null,
"transcript": "ENST00000639916.1",
"protein_id": "ENSP00000490963.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1033-393G>T",
"hgvs_p": null,
"transcript": "ENST00000640610.1",
"protein_id": "ENSP00000491295.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1033-393G>T",
"hgvs_p": null,
"transcript": "ENST00000640287.1",
"protein_id": "ENSP00000492822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": 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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.625-393G>T",
"hgvs_p": null,
"transcript": "ENST00000640872.1",
"protein_id": "ENSP00000491065.1",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PAX6",
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"hgvs_c": "n.3747G>T",
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"transcript": "ENST00000474783.2",
"protein_id": null,
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"feature": null
},
{
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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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1276-393G>T",
"hgvs_p": null,
"transcript": "NM_001368910.2",
"protein_id": "NP_001355839.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1078-1234G>T",
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"transcript": "NM_001368911.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PAX6",
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"hgvs_c": "c.1075-1234G>T",
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"transcript": "NM_001368912.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "PAX6",
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"hgvs_c": "c.1075-1234G>T",
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"transcript": "NM_001368913.2",
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},
{
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],
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"gene_symbol": "PAX6",
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"hgvs_c": "c.1075-1234G>T",
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"transcript": "NM_001368914.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1033-1234G>T",
"hgvs_p": null,
"transcript": "NM_001368915.2",
"protein_id": "NP_001355844.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "PAX6",
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"hgvs_c": "c.1033-1234G>T",
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"transcript": "NM_001368916.2",
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},
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],
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"gene_symbol": "PAX6",
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},
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],
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"gene_symbol": "PAX6",
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"transcript": "ENST00000638963.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1150-393G>T",
"hgvs_p": null,
"transcript": "NM_001368918.2",
"protein_id": "NP_001355847.1",
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1150-393G>T",
"hgvs_p": null,
"transcript": "NM_001368919.2",
"protein_id": "NP_001355848.1",
"transcript_support_level": null,
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