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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: 15-45603107-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45603107&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45603107,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000220531.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Gln78*",
"transcript": "NM_012388.4",
"protein_id": "NP_036520.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 172,
"cds_start": 232,
"cds_end": null,
"cds_length": 519,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": "ENST00000220531.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Gln78*",
"transcript": "ENST00000220531.9",
"protein_id": "ENSP00000220531.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 172,
"cds_start": 232,
"cds_end": null,
"cds_length": 519,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": "NM_012388.4",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260170",
"gene_hgnc_id": null,
"hgvs_c": "c.-18+15582C>T",
"hgvs_p": null,
"transcript": "ENST00000564080.1",
"protein_id": "ENSP00000455047.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Gln83*",
"transcript": "NM_001311255.1",
"protein_id": "NP_001298184.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 177,
"cds_start": 247,
"cds_end": null,
"cds_length": 534,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Gln83*",
"transcript": "ENST00000565323.6",
"protein_id": "ENSP00000456851.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 177,
"cds_start": 247,
"cds_end": null,
"cds_length": 534,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Gln37*",
"transcript": "ENST00000565216.5",
"protein_id": "ENSP00000456067.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 131,
"cds_start": 109,
"cds_end": null,
"cds_length": 396,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Gln28*",
"transcript": "ENST00000569076.5",
"protein_id": "ENSP00000454803.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 112,
"cds_start": 82,
"cds_end": null,
"cds_length": 341,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 557,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.159C>T",
"hgvs_p": null,
"transcript": "ENST00000564310.2",
"protein_id": "ENSP00000455439.2",
"transcript_support_level": 3,
"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": 586,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.228C>T",
"hgvs_p": null,
"transcript": "ENST00000567523.5",
"protein_id": "ENSP00000456624.1",
"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": 1839,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "ENST00000568963.5",
"protein_id": "ENSP00000454438.1",
"transcript_support_level": 4,
"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": 480,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.*225C>T",
"hgvs_p": null,
"transcript": "ENST00000672455.1",
"protein_id": "ENSP00000500302.1",
"transcript_support_level": null,
"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": 439,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.561C>T",
"hgvs_p": null,
"transcript": "NR_132350.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4050,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.293C>T",
"hgvs_p": null,
"transcript": "NR_132351.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3774,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.411C>T",
"hgvs_p": null,
"transcript": "NR_132353.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3900,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.407C>T",
"hgvs_p": null,
"transcript": "NR_132354.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3896,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.255C>T",
"hgvs_p": null,
"transcript": "NR_132356.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3736,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.255C>T",
"hgvs_p": null,
"transcript": "NR_132357.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-60C>T",
"hgvs_p": null,
"transcript": "ENST00000562384.5",
"protein_id": "ENSP00000457077.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-60C>T",
"hgvs_p": null,
"transcript": "ENST00000565409.5",
"protein_id": "ENSP00000455599.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-60C>T",
"hgvs_p": null,
"transcript": "ENST00000567461.5",
"protein_id": "ENSP00000456152.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-60C>T",
"hgvs_p": null,
"transcript": "ENST00000568816.5",
"protein_id": "ENSP00000455021.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-60C>T",
"hgvs_p": null,
"transcript": "ENST00000564765.1",
"protein_id": "ENSP00000454537.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": -4,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-60C>T",
"hgvs_p": null,
"transcript": "ENST00000566801.5",
"protein_id": "ENSP00000454715.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 20,
"cds_start": -4,
"cds_end": null,
"cds_length": 64,
"cdna_start": null,
"cdna_end": null,
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{
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}