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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: 17-37185324-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37185324&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 37185324,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000616317.5",
"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": 56,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4776+2953G>T",
"hgvs_p": null,
"transcript": "NM_198834.3",
"protein_id": "NP_942131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2383,
"cds_start": -4,
"cds_end": null,
"cds_length": 7152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10013,
"mane_select": "ENST00000616317.5",
"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": 56,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4776+2953G>T",
"hgvs_p": null,
"transcript": "ENST00000616317.5",
"protein_id": "ENSP00000483300.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2383,
"cds_start": -4,
"cds_end": null,
"cds_length": 7152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10013,
"mane_select": "NM_198834.3",
"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": 56,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4665+2953G>T",
"hgvs_p": null,
"transcript": "ENST00000614428.4",
"protein_id": "ENSP00000478547.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2346,
"cds_start": -4,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9554,
"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": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.768+2953G>T",
"hgvs_p": null,
"transcript": "ENST00000619546.4",
"protein_id": "ENSP00000483969.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5315,
"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": 56,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4665+2953G>T",
"hgvs_p": null,
"transcript": "NM_198836.3",
"protein_id": "NP_942133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2346,
"cds_start": -4,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9536,
"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": 60,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4665+2953G>T",
"hgvs_p": null,
"transcript": "NM_198839.3",
"protein_id": "NP_942136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2346,
"cds_start": -4,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10687,
"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": 54,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4491+2953G>T",
"hgvs_p": null,
"transcript": "NM_198837.2",
"protein_id": "NP_942134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2288,
"cds_start": -4,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9626,
"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": 54,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4491+2953G>T",
"hgvs_p": null,
"transcript": "ENST00000612895.4",
"protein_id": "ENSP00000482269.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2288,
"cds_start": -4,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9624,
"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": 55,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4431+2953G>T",
"hgvs_p": null,
"transcript": "NM_198838.2",
"protein_id": "NP_942135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2268,
"cds_start": -4,
"cds_end": null,
"cds_length": 6807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9737,
"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": 55,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4431+2953G>T",
"hgvs_p": null,
"transcript": "ENST00000617649.4",
"protein_id": "ENSP00000482368.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2268,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7912,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "n.18+2953G>T",
"hgvs_p": null,
"transcript": "ENST00000618575.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 55,
"intron_rank": 38,
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"gene_symbol": "ACACA",
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"hgvs_c": "c.4752+2953G>T",
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"transcript": "XM_006721853.2",
"protein_id": "XP_006721916.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 39,
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"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4686+2953G>T",
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"transcript": "XM_011524701.2",
"protein_id": "XP_011523003.1",
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},
{
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],
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"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4665+2953G>T",
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"transcript": "XM_011524703.1",
"protein_id": "XP_011523005.1",
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},
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],
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"gene_symbol": "ACACA",
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"hgvs_c": "c.4665+2953G>T",
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"transcript": "XM_047435878.1",
"protein_id": "XP_047291834.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 41,
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"gene_symbol": "ACACA",
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"hgvs_c": "c.4665+2953G>T",
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},
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],
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"gene_symbol": "ACACA",
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"hgvs_c": "c.4665+2953G>T",
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"transcript": "XM_047435880.1",
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},
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],
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"gene_symbol": "ACACA",
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"hgvs_c": "c.4665+2953G>T",
"hgvs_p": null,
"transcript": "XM_047435881.1",
"protein_id": "XP_047291837.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 57,
"intron_rank": 40,
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"gene_symbol": "ACACA",
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"hgvs_c": "c.4665+2953G>T",
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},
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],
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},
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],
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"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4641+2953G>T",
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"transcript": "XM_047435885.1",
"protein_id": "XP_047291841.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 55,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.4491+2953G>T",
"hgvs_p": null,
"transcript": "XM_047435886.1",
"protein_id": "XP_047291842.1",
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}