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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: 17-82928872-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82928872&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82928872,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000355528.9",
"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": 39,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2694-241G>A",
"hgvs_p": null,
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000355528.9",
"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": 39,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2694-241G>A",
"hgvs_p": null,
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_005993.5",
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1352-241G>A",
"hgvs_p": null,
"transcript": "ENST00000571796.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1940,
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1823-241G>A",
"hgvs_p": null,
"transcript": "ENST00000576677.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 7166,
"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": 40,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2961-241G>A",
"hgvs_p": null,
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": -4,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7403,
"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": 39,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2880-241G>A",
"hgvs_p": null,
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1254,
"cds_start": -4,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7322,
"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": 40,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2694-241G>A",
"hgvs_p": null,
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": -4,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3975,
"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": 40,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2787-241G>A",
"hgvs_p": null,
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7252,
"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": 40,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2784-241G>A",
"hgvs_p": null,
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
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"cdna_length": 7258,
"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": 40,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2778-241G>A",
"hgvs_p": null,
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": 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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 29,
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"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2643-241G>A",
"hgvs_p": null,
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 29,
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"gene_symbol": "TBCD",
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"transcript": "ENST00000682722.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "TBCD",
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"transcript": "ENST00000684429.1",
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},
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],
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"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2613-241G>A",
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"transcript": "NM_001411102.1",
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},
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],
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},
{
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],
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"gene_symbol": "TBCD",
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},
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"transcript": "NM_001438250.1",
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},
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"consequences": [
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],
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"hgvs_c": "c.2505-241G>A",
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"transcript": "ENST00000684188.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 25,
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"gene_symbol": "TBCD",
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"transcript": "NM_001437989.1",
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],
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],
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"intron_rank": 18,
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"gene_symbol": "TBCD",
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"hgvs_c": "c.1008-241G>A",
"hgvs_p": null,
"transcript": "ENST00000683821.1",
"protein_id": "ENSP00000507651.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCD",
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"hgvs_c": "n.543-241G>A",
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"transcript": "ENST00000570679.1",
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},
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