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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: 8-144375777-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144375777&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144375777,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_174922.5",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "NM_174922.5",
"protein_id": "NP_777582.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308860.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174922.5"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000308860.11",
"protein_id": "ENSP00000310547.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174922.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308860.11"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "n.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000529654.5",
"protein_id": "ENSP00000431875.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529654.5"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000886485.1",
"protein_id": "ENSP00000556544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886485.1"
},
{
"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000886486.1",
"protein_id": "ENSP00000556545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886486.1"
},
{
"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000967045.1",
"protein_id": "ENSP00000637104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": null,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967045.1"
},
{
"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000913506.1",
"protein_id": "ENSP00000583565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913506.1"
},
{
"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000886487.1",
"protein_id": "ENSP00000556546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": null,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886487.1"
},
{
"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000913507.1",
"protein_id": "ENSP00000583566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": null,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913507.1"
},
{
"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000886488.1",
"protein_id": "ENSP00000556547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
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"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000913503.1",
"protein_id": "ENSP00000583562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "ADCK5",
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"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000913505.1",
"protein_id": "ENSP00000583564.1",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000913505.1"
},
{
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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": 1,
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"gene_symbol": "ADCK5",
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"hgvs_c": "c.12+1670G>C",
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"transcript": "ENST00000886490.1",
"protein_id": "ENSP00000556549.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886490.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "ADCK5",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000913504.1",
"protein_id": "ENSP00000583563.1",
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"cdna_start": null,
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"feature": "ENST00000913504.1"
},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "ADCK5",
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"hgvs_c": "c.12+1670G>C",
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"transcript": "ENST00000967046.1",
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"feature": "ENST00000967046.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000967047.1",
"protein_id": "ENSP00000637106.1",
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"feature": "ENST00000967047.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.12+1670G>C",
"hgvs_p": null,
"transcript": "ENST00000886489.1",
"protein_id": "ENSP00000556548.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ADCK5",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ADCK5",
"gene_hgnc_id": 21738,
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"transcript": "XM_011516907.4",
"protein_id": "XP_011515209.1",
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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": "ADCK5",
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"hgvs_c": "c.-190+1885G>C",
"hgvs_p": null,
"transcript": "XM_017013174.2",
"protein_id": "XP_016868663.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013174.2"
},
{
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"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": "ADCK5",
"gene_hgnc_id": 21738,
"hgvs_c": "c.234+140G>C",
"hgvs_p": null,
"transcript": "XM_047421456.1",
"protein_id": "XP_047277412.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421456.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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}
],
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}