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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: 10-68398295-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68398295&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68398295,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000602465.6",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.297-1414A>G",
"hgvs_p": null,
"transcript": "NM_001330103.2",
"protein_id": "NP_001317032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": "ENST00000602465.6",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.297-1414A>G",
"hgvs_p": null,
"transcript": "ENST00000602465.6",
"protein_id": "ENSP00000473462.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": "NM_001330103.2",
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.296+3325A>G",
"hgvs_p": null,
"transcript": "ENST00000399200.7",
"protein_id": "ENSP00000382151.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "n.336-1414A>G",
"hgvs_p": null,
"transcript": "ENST00000466493.5",
"protein_id": "ENSP00000433197.1",
"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": 2110,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.402-1414A>G",
"hgvs_p": null,
"transcript": "NM_017987.5",
"protein_id": "NP_060457.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": -4,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4701,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.402-1414A>G",
"hgvs_p": null,
"transcript": "ENST00000388768.6",
"protein_id": "ENSP00000373420.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": -4,
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"cds_length": 1926,
"cdna_start": null,
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"cdna_length": 4502,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.296+3325A>G",
"hgvs_p": null,
"transcript": "NM_001042417.2",
"protein_id": "NP_001035882.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 403,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2669,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.123-1414A>G",
"hgvs_p": null,
"transcript": "NM_001278225.2",
"protein_id": "NP_001265154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2597,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUFY2",
"gene_hgnc_id": 19761,
"hgvs_c": "c.123-1414A>G",
"hgvs_p": null,
"transcript": "ENST00000454950.6",
"protein_id": "ENSP00000404986.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "RUFY2",
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"hgvs_c": "n.385-1414A>G",
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"transcript": "ENST00000342616.4",
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},
{
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"consequences": [
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],
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"gene_symbol": "RUFY2",
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"hgvs_c": "n.344-1414A>G",
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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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},
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],
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}