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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: 9-123399942-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=123399942&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 123399942,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000394215.7",
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1631+3460C>G",
"hgvs_p": null,
"transcript": "NM_001352964.2",
"protein_id": "NP_001339893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": -4,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": "ENST00000394215.7",
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1631+3460C>G",
"hgvs_p": null,
"transcript": "ENST00000394215.7",
"protein_id": "ENSP00000377763.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": -4,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": "NM_001352964.2",
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "n.1440+3460C>G",
"hgvs_p": null,
"transcript": "ENST00000473039.5",
"protein_id": null,
"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": 4800,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1577+3460C>G",
"hgvs_p": null,
"transcript": "NM_001393654.1",
"protein_id": "NP_001380583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": -4,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5154,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1481+3460C>G",
"hgvs_p": null,
"transcript": "NM_001352965.2",
"protein_id": "NP_001339894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": -4,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5039,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1481+3460C>G",
"hgvs_p": null,
"transcript": "NM_001400449.1",
"protein_id": "NP_001387378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5104,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1577+3460C>G",
"hgvs_p": null,
"transcript": "NM_020946.2",
"protein_id": "NP_065997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"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
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1577+3460C>G",
"hgvs_p": null,
"transcript": "ENST00000373624.6",
"protein_id": "ENSP00000362727.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"cds_start": -4,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5010,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1685+3460C>G",
"hgvs_p": null,
"transcript": "XM_047423613.1",
"protein_id": "XP_047279569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": -4,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
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"cdna_length": 5254,
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.1676+3460C>G",
"hgvs_p": null,
"transcript": "XM_011518882.4",
"protein_id": "XP_011517184.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
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"gene_symbol": "DENND1A",
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"hgvs_c": "c.1631+3460C>G",
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"transcript": "XM_047423614.1",
"protein_id": "XP_047279570.1",
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},
{
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"consequences": [
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],
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},
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],
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"gene_symbol": "DENND1A",
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},
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],
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"gene_symbol": "DENND1A",
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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": "DENND1A",
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},
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],
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"gene_symbol": "DENND1A",
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},
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],
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"gene_symbol": "DENND1A",
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"hgvs_c": "c.1520+3460C>G",
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