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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: 17-45977330-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45977330&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45977330,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000262410.10",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "NM_001377265.1",
"protein_id": "NP_001364194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": "ENST00000262410.10",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000262410.10",
"protein_id": "ENSP00000262410.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": "NM_001377265.1",
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000344290.10",
"protein_id": "ENSP00000340820.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2609,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.308-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000351559.10",
"protein_id": "ENSP00000303214.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5639,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000420682.7",
"protein_id": "ENSP00000413056.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.134-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000446361.7",
"protein_id": "ENSP00000408975.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5345,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.134-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000334239.12",
"protein_id": "ENSP00000334886.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "n.1839G>A",
"hgvs_p": null,
"transcript": "ENST00000572440.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "n.4548G>A",
"hgvs_p": null,
"transcript": "ENST00000576518.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 6778,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.308-1045G>A",
"hgvs_p": null,
"transcript": "NM_001123066.4",
"protein_id": "NP_001116538.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6644,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.308-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000415613.6",
"protein_id": "ENSP00000410838.2",
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"aa_start": null,
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"aa_length": 776,
"cds_start": -4,
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"cdna_start": null,
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"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": 14,
"intron_rank": 4,
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"gene_symbol": "MAPT",
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"hgvs_c": "c.308-1045G>A",
"hgvs_p": null,
"transcript": "NM_016835.5",
"protein_id": "NP_058519.3",
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"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": 13,
"intron_rank": 3,
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"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.308-1045G>A",
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"transcript": "ENST00000571987.5",
"protein_id": "ENSP00000458742.1",
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"aa_start": 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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "NM_001377266.1",
"protein_id": "NP_001364195.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MAPT",
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"hgvs_c": "c.308-1045G>A",
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"transcript": "NM_005910.6",
"protein_id": "NP_005901.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
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"hgvs_c": "c.308-1045G>A",
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"transcript": "ENST00000574436.5",
"protein_id": "ENSP00000460965.1",
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},
{
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],
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"gene_symbol": "MAPT",
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"hgvs_c": "c.134-1045G>A",
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"transcript": "ENST00000680674.1",
"protein_id": "ENSP00000505478.1",
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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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "NM_001123067.4",
"protein_id": "NP_001116539.1",
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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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAPT",
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"hgvs_c": "c.308-1045G>A",
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"transcript": "NM_001203252.2",
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},
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"consequences": [
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "MAPT",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "NM_001203251.2",
"protein_id": "NP_001190180.1",
"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,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.221-1045G>A",
"hgvs_p": null,
"transcript": "ENST00000535772.6",
"protein_id": "ENSP00000443028.2",
"transcript_support_level": 5,
"aa_start": null,
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},
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}
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}