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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: 17-68386068-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68386068&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68386068,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000621439.5",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "NM_001267727.2",
"protein_id": "NP_001254656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": "ENST00000621439.5",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "ENST00000621439.5",
"protein_id": "ENSP00000480910.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": "NM_001267727.2",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "ENST00000448504.6",
"protein_id": "ENSP00000407193.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4642,
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "NM_001352899.2",
"protein_id": "NP_001339828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2985,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "NM_001352900.2",
"protein_id": "NP_001339829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4555,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "NM_001352901.2",
"protein_id": "NP_001339830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "NM_001352902.2",
"protein_id": "NP_001339831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1091+896T>C",
"hgvs_p": null,
"transcript": "NM_014960.5",
"protein_id": "NP_055775.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4654,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1088+896T>C",
"hgvs_p": null,
"transcript": "NM_001352903.2",
"protein_id": "NP_001339832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
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"cds_length": 1575,
"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "ARSG",
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"hgvs_c": "c.1088+896T>C",
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"transcript": "NM_001352904.2",
"protein_id": "NP_001339833.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "ARSG",
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"hgvs_c": "c.1088+896T>C",
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"transcript": "NM_001352905.2",
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],
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],
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],
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],
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},
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],
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},
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],
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"transcript": "XM_011524536.3",
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],
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},
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],
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