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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: 2-62986835-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=62986835&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 62986835,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000431489.6",
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2609-3881T>G",
"hgvs_p": null,
"transcript": "NM_001142616.3",
"protein_id": "NP_001136088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "ENST00000431489.6",
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2609-3881T>G",
"hgvs_p": null,
"transcript": "ENST00000431489.6",
"protein_id": "ENSP00000403783.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "NM_001142616.3",
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2714-1096T>G",
"hgvs_p": null,
"transcript": "ENST00000263991.9",
"protein_id": "ENSP00000263991.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5165,
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2609-1096T>G",
"hgvs_p": null,
"transcript": "ENST00000405289.5",
"protein_id": "ENSP00000385524.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1196,
"cds_start": -4,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3591,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "n.225-3881T>G",
"hgvs_p": null,
"transcript": "ENST00000496857.5",
"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": 1262,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2714-1096T>G",
"hgvs_p": null,
"transcript": "NM_001354212.1",
"protein_id": "NP_001341141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
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"cds_length": 3696,
"cdna_start": null,
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"cdna_length": 4995,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2714-1096T>G",
"hgvs_p": null,
"transcript": "NM_001354213.1",
"protein_id": "NP_001341142.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1231,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2714-1096T>G",
"hgvs_p": null,
"transcript": "NM_001354214.1",
"protein_id": "NP_001341143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5049,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2714-1096T>G",
"hgvs_p": null,
"transcript": "NM_015252.5",
"protein_id": "NP_056067.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"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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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "EHBP1",
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"hgvs_c": "c.2711-1096T>G",
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"transcript": "NM_001354215.1",
"protein_id": "NP_001341144.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "EHBP1",
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"hgvs_c": "c.2711-1096T>G",
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"transcript": "NM_001354216.2",
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},
{
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],
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],
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"gene_symbol": "EHBP1",
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},
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],
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},
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],
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"gene_symbol": "EHBP1",
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"hgvs_c": "c.386-1096T>G",
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},
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],
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"gene_symbol": "EHBP1",
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"hgvs_c": "n.14-3881T>G",
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