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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: 4-155724361-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155724361&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 155724361,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000506455.6",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1871+2169C>A",
"hgvs_p": null,
"transcript": "NM_001130682.3",
"protein_id": "NP_001124154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9205,
"mane_select": "ENST00000506455.6",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1871+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000506455.6",
"protein_id": "ENSP00000424361.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9205,
"mane_select": "NM_001130682.3",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1871+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000296518.11",
"protein_id": "ENSP00000296518.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4400,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1871+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000511108.5",
"protein_id": "ENSP00000421493.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2992,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1871+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000513574.1",
"protein_id": "ENSP00000426040.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1097+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000393832.7",
"protein_id": "ENSP00000377418.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.*1314+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000443668.6",
"protein_id": "ENSP00000409903.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.*243+2169C>A",
"hgvs_p": null,
"transcript": "ENST00000515201.5",
"protein_id": "ENSP00000422141.1",
"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": 1282,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.1871+2169C>A",
"hgvs_p": null,
"transcript": "NM_000856.6",
"protein_id": "NP_000847.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 690,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "GUCY1A1",
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"hgvs_c": "c.1871+2169C>A",
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"transcript": "NM_001130683.4",
"protein_id": "NP_001124155.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "GUCY1A1",
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"transcript": "NM_001130684.3",
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},
{
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],
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{
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],
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"hgvs_c": "c.1871+2169C>A",
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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": "GUCY1A1",
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"hgvs_c": "c.1871+2169C>A",
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"transcript": "ENST00000455639.6",
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},
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],
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"gene_symbol": "GUCY1A1",
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"hgvs_c": "c.1717-5669C>A",
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}