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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: 22-29297650-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29297650&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29297650,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000397938.7",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1295-177G>A",
"hgvs_p": null,
"transcript": "NM_005243.4",
"protein_id": "NP_005234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": "ENST00000397938.7",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1295-177G>A",
"hgvs_p": null,
"transcript": "ENST00000397938.7",
"protein_id": "ENSP00000381031.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": "NM_005243.4",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1292-177G>A",
"hgvs_p": null,
"transcript": "ENST00000406548.5",
"protein_id": "ENSP00000385726.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": -4,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2207,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1187-177G>A",
"hgvs_p": null,
"transcript": "ENST00000332050.10",
"protein_id": "ENSP00000330896.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "n.6245-177G>A",
"hgvs_p": null,
"transcript": "ENST00000479135.5",
"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": 7285,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1298-177G>A",
"hgvs_p": null,
"transcript": "NM_001438500.1",
"protein_id": "NP_001425429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
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"cdna_length": 2442,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1295-177G>A",
"hgvs_p": null,
"transcript": "NM_001438528.1",
"protein_id": "NP_001425457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": -4,
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"cds_length": 2010,
"cdna_start": null,
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"cdna_length": 2439,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1295-177G>A",
"hgvs_p": null,
"transcript": "NM_001438530.1",
"protein_id": "NP_001425459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": -4,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2439,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1292-177G>A",
"hgvs_p": null,
"transcript": "NM_001438531.1",
"protein_id": "NP_001425460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
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"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 13,
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"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1310-177G>A",
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"transcript": "NM_013986.4",
"protein_id": "NP_053733.2",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 13,
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"gene_symbol": "EWSR1",
"gene_hgnc_id": 3508,
"hgvs_c": "c.1310-177G>A",
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"transcript": "ENST00000414183.6",
"protein_id": "ENSP00000400142.2",
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{
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],
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},
{
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],
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"gene_symbol": "EWSR1",
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],
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"gene_symbol": "EWSR1",
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"hgvs_c": "c.1292-177G>A",
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],
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},
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],
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"gene_symbol": "EWSR1",
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],
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"hgvs_c": "c.1298-177G>A",
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"transcript": "NM_001438541.1",
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],
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"hgvs_c": "c.1298-1083G>A",
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},
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],
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"intron_rank": 12,
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"gene_symbol": "EWSR1",
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"phenotype_combined": "not provided",
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}
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}