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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: 3-173915081-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=173915081&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 173915081,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000695368.1",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.706+107249G>T",
"hgvs_p": null,
"transcript": "NM_001365925.2",
"protein_id": "NP_001352854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16241,
"mane_select": "ENST00000695368.1",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.706+107249G>T",
"hgvs_p": null,
"transcript": "ENST00000695368.1",
"protein_id": "ENSP00000511841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16241,
"mane_select": "NM_001365925.2",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.766+107249G>T",
"hgvs_p": null,
"transcript": "ENST00000415045.2",
"protein_id": "ENSP00000410374.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.646+107249G>T",
"hgvs_p": null,
"transcript": "ENST00000361589.8",
"protein_id": "ENSP00000354541.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5092,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.646+107249G>T",
"hgvs_p": null,
"transcript": "ENST00000457714.5",
"protein_id": "ENSP00000392500.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8242,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.706+107249G>T",
"hgvs_p": null,
"transcript": "NM_001365923.2",
"protein_id": "NP_001352852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.706+107249G>T",
"hgvs_p": null,
"transcript": "NM_001365924.2",
"protein_id": "NP_001352853.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.706+107249G>T",
"hgvs_p": null,
"transcript": "NM_001365926.2",
"protein_id": "NP_001352855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16665,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NLGN1",
"gene_hgnc_id": 14291,
"hgvs_c": "c.706+107249G>T",
"hgvs_p": null,
"transcript": "NM_001365927.2",
"protein_id": "NP_001352856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"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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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "NLGN1",
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"hgvs_c": "c.706+107249G>T",
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"transcript": "NM_001365928.2",
"protein_id": "NP_001352857.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "NLGN1",
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"hgvs_c": "c.646+107249G>T",
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"transcript": "NM_001365929.2",
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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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],
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},
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"gene_symbol": "NLGN1",
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],
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],
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"gene_symbol": "NLGN1-AS1",
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"transcript": "NR_046664.1",
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},
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],
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"intron_rank": 4,
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