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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: 1-204311708-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204311708&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204311708,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_014935.5",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-94-36899A>G",
"hgvs_p": null,
"transcript": "NM_014935.5",
"protein_id": "NP_055750.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272203.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014935.5"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-94-36899A>G",
"hgvs_p": null,
"transcript": "ENST00000272203.8",
"protein_id": "ENSP00000272203.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014935.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272203.8"
},
{
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.219-36899A>G",
"hgvs_p": null,
"transcript": "ENST00000564627.4",
"protein_id": "ENSP00000490720.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564627.4"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-94-36899A>G",
"hgvs_p": null,
"transcript": "ENST00000859254.1",
"protein_id": "ENSP00000529313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": null,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859254.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+20240A>G",
"hgvs_p": null,
"transcript": "ENST00000859275.1",
"protein_id": "ENSP00000529334.1",
"transcript_support_level": null,
"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": "ENST00000859275.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-94-36899A>G",
"hgvs_p": null,
"transcript": "ENST00000859260.1",
"protein_id": "ENSP00000529319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": null,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859260.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-94-36899A>G",
"hgvs_p": null,
"transcript": "ENST00000859256.1",
"protein_id": "ENSP00000529315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": null,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859256.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-154+20240A>G",
"hgvs_p": null,
"transcript": "ENST00000859267.1",
"protein_id": "ENSP00000529326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": null,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859267.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+36293A>G",
"hgvs_p": null,
"transcript": "ENST00000859262.1",
"protein_id": "ENSP00000529321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
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"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859262.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+20240A>G",
"hgvs_p": null,
"transcript": "ENST00000859268.1",
"protein_id": "ENSP00000529327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
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"cds_length": 3294,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859268.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
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"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+2401A>G",
"hgvs_p": null,
"transcript": "ENST00000859277.1",
"protein_id": "ENSP00000529336.1",
"transcript_support_level": null,
"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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"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
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"gene_symbol": "PLEKHA6",
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"hgvs_c": "c.-95+20240A>G",
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"transcript": "ENST00000859274.1",
"protein_id": "ENSP00000529333.1",
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"cdna_start": null,
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"feature": "ENST00000859274.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
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"gene_symbol": "PLEKHA6",
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"hgvs_c": "c.-94-36899A>G",
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"cds_start": null,
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"feature": "ENST00000859255.1"
},
{
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"strand": false,
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],
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"gene_symbol": "PLEKHA6",
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},
{
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"consequences": [
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],
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"exon_count": 24,
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"gene_symbol": "PLEKHA6",
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"hgvs_c": "c.-95+20240A>G",
"hgvs_p": null,
"transcript": "ENST00000859270.1",
"protein_id": "ENSP00000529329.1",
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"cdna_start": null,
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},
{
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"strand": false,
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],
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"gene_symbol": "PLEKHA6",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PLEKHA6",
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"hgvs_c": "c.-95+36293A>G",
"hgvs_p": null,
"transcript": "ENST00000859261.1",
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"feature": "ENST00000859261.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PLEKHA6",
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"hgvs_c": "c.-95+20280A>G",
"hgvs_p": null,
"transcript": "ENST00000859266.1",
"protein_id": "ENSP00000529325.1",
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},
{
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],
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"gene_symbol": "PLEKHA6",
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},
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],
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"gene_symbol": "PLEKHA6",
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},
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],
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"gene_symbol": "PLEKHA6",
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"transcript": "ENST00000859258.1",
"protein_id": "ENSP00000529317.1",
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"biotype": "protein_coding",
"feature": "ENST00000859258.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+20240A>G",
"hgvs_p": null,
"transcript": "ENST00000859263.1",
"protein_id": "ENSP00000529322.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859263.1"
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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