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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: 6-138478318-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138478318&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138478318,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000343505.10",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.212-4885C>G",
"hgvs_p": null,
"transcript": "NM_001144060.2",
"protein_id": "NP_001137532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7063,
"mane_select": "ENST00000343505.10",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.212-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000343505.10",
"protein_id": "ENSP00000344672.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7063,
"mane_select": "NM_001144060.2",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.443-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000491526.7",
"protein_id": "ENSP00000433523.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1683,
"cds_start": -4,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7579,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.356-4885C>G",
"hgvs_p": null,
"transcript": "NM_020464.2",
"protein_id": "NP_065197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7529,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.356-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000427025.6",
"protein_id": "ENSP00000394546.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7500,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.170-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000342260.9",
"protein_id": "ENSP00000344582.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": -4,
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"cdna_start": null,
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"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": 4,
"intron_rank": 2,
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"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.215-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000533765.1",
"protein_id": "ENSP00000434958.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "n.416-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000426841.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "n.290-4885C>G",
"hgvs_p": null,
"transcript": "ENST00000479393.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "NHSL1",
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"hgvs_c": "c.497-4885C>G",
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"transcript": "XM_011535976.2",
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},
{
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],
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"gene_symbol": "NHSL1",
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"transcript": "XM_047419109.1",
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],
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],
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}