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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: 12-1486417-CTTTAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1486417&ref=CTTTAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 1486417,
"ref": "CTTTAT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_178040.4",
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3657_3214-3653delATTTT",
"hgvs_p": null,
"transcript": "NM_178040.4",
"protein_id": "NP_829884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360905.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178040.4"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000360905.9",
"protein_id": "ENSP00000354158.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360905.9"
},
{
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000589028.6",
"protein_id": "ENSP00000468263.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589028.6"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3130-3675_3130-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000543086.7",
"protein_id": "ENSP00000438546.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": null,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543086.7"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.*9-3675_*9-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000355446.9",
"protein_id": "ENSP00000347621.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355446.9"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.*228-3675_*228-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000347735.10",
"protein_id": "ENSP00000340054.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000347735.10"
},
{
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.*228-3675_*228-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000440394.7",
"protein_id": "ENSP00000410064.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000440394.7"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.*228-3675_*228-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000545948.5",
"protein_id": "ENSP00000442976.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545948.5"
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3226-3675_3226-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000546231.6",
"protein_id": "ENSP00000442739.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": null,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546231.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3226-3675_3226-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000950324.1",
"protein_id": "ENSP00000620383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950324.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3226-3675_3226-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000950325.1",
"protein_id": "ENSP00000620384.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3226-3675_3226-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000950327.1",
"protein_id": "ENSP00000620386.1",
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"biotype": "protein_coding",
"feature": "ENST00000950327.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000397203.7",
"protein_id": "ENSP00000380386.4",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
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"transcript": "ENST00000895621.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000895621.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000895624.1",
"protein_id": "ENSP00000565683.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000895624.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERC1",
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"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000895626.1",
"protein_id": "ENSP00000565685.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000895626.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3214-3675_3214-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000895631.1",
"protein_id": "ENSP00000565690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895631.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3130-3657_3130-3653delATTTT",
"hgvs_p": null,
"transcript": "NM_178039.4",
"protein_id": "NP_829883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "NM_178039.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3130-3675_3130-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000895622.1",
"protein_id": "ENSP00000565681.1",
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"biotype": "protein_coding",
"feature": "ENST00000895622.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3130-3675_3130-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000895623.1",
"protein_id": "ENSP00000565682.1",
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"biotype": "protein_coding",
"feature": "ENST00000895623.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3130-3675_3130-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000895625.1",
"protein_id": "ENSP00000565684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895625.1"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.3130-3675_3130-3671delTTTAT",
"hgvs_p": null,
"transcript": "ENST00000916653.1",
"protein_id": "ENSP00000586712.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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}