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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: 2-190650716-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190650716&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190650716,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000337386.10",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
"transcript": "NM_005966.4",
"protein_id": "NP_005957.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": "ENST00000337386.10",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
"transcript": "ENST00000337386.10",
"protein_id": "ENSP00000336894.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": "NM_005966.4",
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-5457A>G",
"hgvs_p": null,
"transcript": "XM_047444442.1",
"protein_id": "XP_047300398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10076,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+1356A>G",
"hgvs_p": null,
"transcript": "NM_001321312.2",
"protein_id": "NP_001308241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4194,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+1745A>G",
"hgvs_p": null,
"transcript": "NM_001321313.1",
"protein_id": "NP_001308242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3993,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+1356A>G",
"hgvs_p": null,
"transcript": "ENST00000409581.5",
"protein_id": "ENSP00000387089.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2360,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+1745A>G",
"hgvs_p": null,
"transcript": "ENST00000416973.1",
"protein_id": "ENSP00000404104.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+3858A>G",
"hgvs_p": null,
"transcript": "ENST00000448811.1",
"protein_id": "ENSP00000388301.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "ENST00000426601.1",
"protein_id": "ENSP00000397014.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "XM_005246582.2",
"protein_id": "XP_005246639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4145,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+1356A>G",
"hgvs_p": null,
"transcript": "XM_005246583.2",
"protein_id": "XP_005246640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4371,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-74+734A>G",
"hgvs_p": null,
"transcript": "XM_011511219.4",
"protein_id": "XP_011509521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
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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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "XM_017004170.2",
"protein_id": "XP_016859659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
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"cdna_start": 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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+1088A>G",
"hgvs_p": null,
"transcript": "XM_017004176.2",
"protein_id": "XP_016859665.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "XM_024452917.2",
"protein_id": "XP_024308685.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 487,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
"transcript": "XM_047444443.1",
"protein_id": "XP_047300399.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
"transcript": "XM_047444444.1",
"protein_id": "XP_047300400.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 487,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
"transcript": "XM_047444445.1",
"protein_id": "XP_047300401.1",
"transcript_support_level": null,
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"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
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"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
"transcript": "XM_047444446.1",
"protein_id": "XP_047300402.1",
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},
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],
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"intron_rank_end": null,
"gene_symbol": "NAB1",
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"hgvs_c": "c.-197+734A>G",
"hgvs_p": null,
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"protein_id": "XP_047300403.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "XM_047444448.1",
"protein_id": "XP_047300404.1",
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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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "XM_047444449.1",
"protein_id": "XP_047300405.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 487,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4130,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAB1",
"gene_hgnc_id": 7626,
"hgvs_c": "c.-20+734A>G",
"hgvs_p": null,
"transcript": "XM_047444450.1",
"protein_id": "XP_047300406.1",
"transcript_support_level": null,
"aa_start": 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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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}