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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: 12-26937997-G-GCACACACACACACACACACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=26937997&ref=G&alt=GCACACACACACACACACACA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 26937997,
"ref": "G",
"alt": "GCACACACACACACACACACA",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000892608.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892608.1",
"protein_id": "ENSP00000562667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892611.1",
"protein_id": "ENSP00000562670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000946631.1",
"protein_id": "ENSP00000616690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892615.1",
"protein_id": "ENSP00000562674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892606.1",
"protein_id": "ENSP00000562665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": null,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892614.1",
"protein_id": "ENSP00000562673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892607.1",
"protein_id": "ENSP00000562666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892609.1",
"protein_id": "ENSP00000562668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892610.1",
"protein_id": "ENSP00000562669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
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"cds_length": 1806,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892610.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-180-189_-180-188insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892612.1",
"protein_id": "ENSP00000562671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000892612.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+270_-12+271insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000892613.1",
"protein_id": "ENSP00000562672.1",
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"aa_start": null,
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"cds_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-98+270_-98+271insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000946630.1",
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"cdna_start": null,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "INTS13",
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"hgvs_c": "c.-163-189_-163-188insTGTGTGTGTGTGTGTGTGTG",
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"transcript": "ENST00000544548.5",
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},
{
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],
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},
{
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],
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "INTS13",
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"hgvs_c": "c.-12+270_-12+271insTGTGTGTGTGTGTGTGTGTG",
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},
{
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],
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"gene_symbol": "INTS13",
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"hgvs_c": "c.-12+270_-12+271insTGTGTGTGTGTGTGTGTGTG",
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"transcript": "XM_017019632.2",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-12+270_-12+271insTGTGTGTGTGTGTGTGTGTG",
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"transcript": "XM_047429145.1",
"protein_id": "XP_047285101.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "INTS13",
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},
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],
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"gene_symbol": "INTS13",
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},
{
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],
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"gene_symbol": "INTS13",
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"hgvs_c": "c.-12+270_-12+271insTGTGTGTGTGTGTGTGTGTG",
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"transcript": "XM_024449055.2",
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"biotype": "protein_coding",
"feature": "XM_024449055.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
"gene_hgnc_id": 20174,
"hgvs_c": "c.-214_-213insTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "NM_018164.3",
"protein_id": "NP_060634.2",
"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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"cdna_length": null,
"mane_select": "ENST00000261191.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018164.3"
},
{
"aa_ref": null,
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS13",
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}