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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: 1-62633352-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62633352&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62633352,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001367561.1",
"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": 50,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "NM_001367561.1",
"protein_id": "NP_001354490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2140,
"cds_start": null,
"cds_end": null,
"cds_length": 6423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635253.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367561.1"
},
{
"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": 50,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "ENST00000635253.2",
"protein_id": "ENSP00000489124.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2140,
"cds_start": null,
"cds_end": null,
"cds_length": 6423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367561.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635253.2"
},
{
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "ENST00000454575.6",
"protein_id": "ENSP00000413583.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2129,
"cds_start": null,
"cds_end": null,
"cds_length": 6390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454575.6"
},
{
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "ENST00000912940.1",
"protein_id": "ENSP00000582999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2138,
"cds_start": null,
"cds_end": null,
"cds_length": 6417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912940.1"
},
{
"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": 50,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "NM_001330614.2",
"protein_id": "NP_001317543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2131,
"cds_start": null,
"cds_end": null,
"cds_length": 6396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330614.2"
},
{
"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": 50,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "ENST00000251157.10",
"protein_id": "ENSP00000251157.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2131,
"cds_start": null,
"cds_end": null,
"cds_length": 6396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251157.10"
},
{
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "NM_001271999.2",
"protein_id": "NP_001258928.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2129,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271999.2"
},
{
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "ENST00000912941.1",
"protein_id": "ENSP00000583000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2126,
"cds_start": null,
"cds_end": null,
"cds_length": 6381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912941.1"
},
{
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
"hgvs_p": null,
"transcript": "NM_033407.4",
"protein_id": "NP_212132.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2109,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "DOCK7",
"gene_hgnc_id": 19190,
"hgvs_c": "c.1116+146A>G",
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"transcript": "ENST00000340370.10",
"protein_id": "ENSP00000340742.5",
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"biotype": "protein_coding",
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},
{
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"consequences": [
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],
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"gene_symbol": "DOCK7",
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"transcript": "ENST00000895032.1",
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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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},
{
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],
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},
{
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],
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}
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}