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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: 1-235341998-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235341998&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235341998,
"ref": "AT",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000282841.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-6delT",
"hgvs_p": null,
"transcript": "NM_004837.4",
"protein_id": "NP_004828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": "ENST00000282841.9",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-12delT",
"hgvs_p": null,
"transcript": "ENST00000282841.9",
"protein_id": "ENSP00000282841.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": "NM_004837.4",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-435+6665delT",
"hgvs_p": null,
"transcript": "ENST00000647186.1",
"protein_id": "ENSP00000494775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2486,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-12delT",
"hgvs_p": null,
"transcript": "ENST00000488594.5",
"protein_id": "ENSP00000418690.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1396,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-597-837delT",
"hgvs_p": null,
"transcript": "ENST00000645205.1",
"protein_id": "ENSP00000495823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-32+13221delT",
"hgvs_p": null,
"transcript": "ENST00000645351.1",
"protein_id": "ENSP00000494319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2010,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-550+6665delT",
"hgvs_p": null,
"transcript": "ENST00000645655.1",
"protein_id": "ENSP00000495202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-550+13221delT",
"hgvs_p": null,
"transcript": "ENST00000646624.1",
"protein_id": "ENSP00000494575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2513,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-211+13221delT",
"hgvs_p": null,
"transcript": "ENST00000647428.1",
"protein_id": "ENSP00000495630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1782,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-435+13221delT",
"hgvs_p": null,
"transcript": "ENST00000646281.1",
"protein_id": "ENSP00000495225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-6delT",
"hgvs_p": null,
"transcript": "NM_001037277.1",
"protein_id": "NP_001032354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-6delT",
"hgvs_p": null,
"transcript": "NM_001371477.1",
"protein_id": "NP_001358406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-6delT",
"hgvs_p": null,
"transcript": "NM_001371478.1",
"protein_id": "NP_001358407.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-12delT",
"hgvs_p": null,
"transcript": "ENST00000358966.6",
"protein_id": "ENSP00000351852.2",
"transcript_support_level": 2,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.-21-6delT",
"hgvs_p": null,
"transcript": "NM_001037278.2",
"protein_id": "NP_001032355.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 246,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.-21-12delT",
"hgvs_p": null,
"transcript": "ENST00000391855.2",
"protein_id": "ENSP00000375728.2",
"transcript_support_level": 2,
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},
{
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-12delT",
"hgvs_p": null,
"transcript": "ENST00000471812.5",
"protein_id": "ENSP00000417772.1",
"transcript_support_level": 2,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GGPS1",
"gene_hgnc_id": 4249,
"hgvs_c": "c.142-12delT",
"hgvs_p": null,
"transcript": "ENST00000497327.1",
"protein_id": "ENSP00000417865.1",
"transcript_support_level": 3,
"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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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.-550+6665delT",
"hgvs_p": null,
"transcript": "ENST00000643758.1",
"protein_id": "ENSP00000496048.1",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000285053",
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"hgvs_c": "n.-550+13221delT",
"hgvs_p": null,
"transcript": "ENST00000642503.1",
"protein_id": "ENSP00000494334.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000285053",
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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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "n.-32+13221delT",
"hgvs_p": null,
"transcript": "ENST00000643418.1",
"protein_id": "ENSP00000495711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 988,
"mane_select": null,
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"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "n.-21-12delT",
"hgvs_p": null,
"transcript": "ENST00000644055.1",
"protein_id": "ENSP00000496307.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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}
],
"message": null
}