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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: 2-188294042-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=188294042&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 188294042,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000409830.6",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+1876A>T",
"hgvs_p": null,
"transcript": "NM_016315.4",
"protein_id": "NP_057399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "ENST00000409830.6",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+1876A>T",
"hgvs_p": null,
"transcript": "ENST00000409830.6",
"protein_id": "ENSP00000386732.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "NM_016315.4",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+930A>T",
"hgvs_p": null,
"transcript": "ENST00000359135.7",
"protein_id": "ENSP00000352047.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3347,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+1876A>T",
"hgvs_p": null,
"transcript": "ENST00000410051.5",
"protein_id": "ENSP00000387013.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-523A>T",
"hgvs_p": null,
"transcript": "ENST00000409609.5",
"protein_id": "ENSP00000386867.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1932,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+1876A>T",
"hgvs_p": null,
"transcript": "NM_001375948.1",
"protein_id": "NP_001362877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3519,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-266+930A>T",
"hgvs_p": null,
"transcript": "NM_001375949.1",
"protein_id": "NP_001362878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3605,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+1876A>T",
"hgvs_p": null,
"transcript": "ENST00000433052.2",
"protein_id": "ENSP00000391712.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2098,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-172+1876A>T",
"hgvs_p": null,
"transcript": "NM_001375940.1",
"protein_id": "NP_001362869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-266+1823A>T",
"hgvs_p": null,
"transcript": "NM_001375941.1",
"protein_id": "NP_001362870.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 374,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-266+930A>T",
"hgvs_p": null,
"transcript": "NM_001375942.1",
"protein_id": "NP_001362871.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "GULP1",
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},
{
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],
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"gene_symbol": "GULP1",
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"hgvs_c": "c.-172+1876A>T",
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},
{
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],
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"gene_symbol": "GULP1",
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"hgvs_c": "c.-172+1823A>T",
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},
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],
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"protein_id": "NP_001362863.1",
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},
{
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],
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"gene_symbol": "GULP1",
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},
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],
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"gene_symbol": "GULP1",
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"hgvs_c": "c.-172+1431A>T",
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-45+1876A>T",
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"transcript": "NM_001375937.1",
"protein_id": "NP_001362866.1",
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},
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],
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"gene_symbol": "GULP1",
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],
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "GULP1",
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"hgvs_c": "c.-367+1876A>T",
"hgvs_p": null,
"transcript": "NM_001375951.1",
"protein_id": "NP_001362880.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GULP1",
"gene_hgnc_id": 18649,
"hgvs_c": "c.-45+1876A>T",
"hgvs_p": null,
"transcript": "NM_001375952.1",
"protein_id": "NP_001362881.1",
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{
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"verdict": "Likely_benign",
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],
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}
],
"message": null
}