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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: 11-45961406-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45961406&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45961406,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000676320.1",
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.996+3909A>C",
"hgvs_p": null,
"transcript": "NM_001352027.3",
"protein_id": "NP_001338956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "ENST00000676320.1",
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.996+3909A>C",
"hgvs_p": null,
"transcript": "ENST00000676320.1",
"protein_id": "ENSP00000502222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "NM_001352027.3",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.996+3909A>C",
"hgvs_p": null,
"transcript": "ENST00000323180.10",
"protein_id": "ENSP00000323152.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3675,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1017+3909A>C",
"hgvs_p": null,
"transcript": "NM_001441167.1",
"protein_id": "NP_001428096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7360,
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1017+3909A>C",
"hgvs_p": null,
"transcript": "NM_001441168.1",
"protein_id": "NP_001428097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7472,
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1014+3909A>C",
"hgvs_p": null,
"transcript": "NM_001441169.1",
"protein_id": "NP_001428098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
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"cdna_length": 7469,
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.996+3909A>C",
"hgvs_p": null,
"transcript": "NM_001352025.3",
"protein_id": "NP_001338954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7482,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.996+3909A>C",
"hgvs_p": null,
"transcript": "NM_001352026.3",
"protein_id": "NP_001338955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7339,
"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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.996+3909A>C",
"hgvs_p": null,
"transcript": "NM_001441170.1",
"protein_id": "NP_001428099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 9,
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"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.993+3909A>C",
"hgvs_p": null,
"transcript": "NM_001101802.3",
"protein_id": "NP_001095272.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 9,
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"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.993+3909A>C",
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"transcript": "ENST00000418153.6",
"protein_id": "ENSP00000398824.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "PHF21A",
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},
{
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],
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"gene_symbol": "PHF21A",
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"hgvs_c": "c.996+3909A>C",
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},
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],
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"gene_symbol": "PHF21A",
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],
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"hgvs_c": "c.996+3909A>C",
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},
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],
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},
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],
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"gene_symbol": "PHF21A",
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],
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],
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"gene_symbol": "PHF21A",
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"hgvs_c": "n.1849+3909A>C",
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"transcript": "ENST00000527401.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PHF21A",
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"hgvs_c": "n.144+3909A>C",
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