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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: 6-131004380-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131004380&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131004380,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000337057.8",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "NM_001431.4",
"protein_id": "NP_001422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": "ENST00000337057.8",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "ENST00000337057.8",
"protein_id": "ENSP00000338481.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": "NM_001431.4",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "ENST00000392427.7",
"protein_id": "ENSP00000376222.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3369,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "NM_001350301.2",
"protein_id": "NP_001337230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4437,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "ENST00000368128.6",
"protein_id": "ENSP00000357110.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "NM_001350303.2",
"protein_id": "NP_001337232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
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"cds_length": 2871,
"cdna_start": null,
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"cdna_length": 4233,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "NM_001350304.2",
"protein_id": "NP_001337233.1",
"transcript_support_level": null,
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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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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "NM_001350305.2",
"protein_id": "NP_001337234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4183,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.-14-47881A>G",
"hgvs_p": null,
"transcript": "ENST00000527411.5",
"protein_id": "ENSP00000436348.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": 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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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.-14-47881A>G",
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"transcript": "ENST00000628542.2",
"protein_id": "ENSP00000486691.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.-14-47881A>G",
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"transcript": "NM_001350307.2",
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},
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],
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],
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},
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"gene_symbol": "EPB41L2",
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},
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],
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],
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"gene_symbol": "EPB41L2",
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},
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],
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"hgvs_c": "c.-14-47881A>G",
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}