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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: 5-122460443-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=122460443&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 122460443,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000261368.13",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2755-3048T>C",
"hgvs_p": null,
"transcript": "NM_005460.4",
"protein_id": "NP_005451.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": "ENST00000261368.13",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2755-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000261368.13",
"protein_id": "ENSP00000261368.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": "NM_005460.4",
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2967-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000261367.11",
"protein_id": "ENSP00000261367.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1016,
"cds_start": -4,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4986,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*1502-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000508017.5",
"protein_id": "ENSP00000424338.1",
"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": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MGC32805",
"gene_hgnc_id": 28478,
"hgvs_c": "n.304-5934A>G",
"hgvs_p": null,
"transcript": "ENST00000510972.5",
"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": 1424,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*1573-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000512385.5",
"protein_id": "ENSP00000426280.1",
"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": 2564,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2967-3048T>C",
"hgvs_p": null,
"transcript": "NM_001308100.2",
"protein_id": "NP_001295029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1016,
"cds_start": -4,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5093,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2575-3048T>C",
"hgvs_p": null,
"transcript": "NM_001308105.1",
"protein_id": "NP_001295034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3349,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1837-3048T>C",
"hgvs_p": null,
"transcript": "NM_001308108.1",
"protein_id": "NP_001295037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": -4,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1728-3048T>C",
"hgvs_p": null,
"transcript": "NM_001242935.3",
"protein_id": "NP_001229864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
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"cdna_length": 2596,
"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,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1657-3048T>C",
"hgvs_p": null,
"transcript": "NM_001308107.2",
"protein_id": "NP_001295036.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 553,
"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,
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "SNCAIP",
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"hgvs_c": "c.1651-3048T>C",
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"transcript": "NM_001308106.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "SNCAIP",
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"hgvs_c": "c.1543-3048T>C",
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"transcript": "NM_001308109.2",
"protein_id": "NP_001295038.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "SNCAIP",
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"hgvs_c": "n.*1616-3048T>C",
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"transcript": "ENST00000395466.6",
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},
{
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],
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"gene_symbol": "SNCAIP",
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"hgvs_c": "n.*1354-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000395469.6",
"protein_id": "ENSP00000378852.2",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "MGC32805",
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"hgvs_c": "n.495+18143A>G",
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},
{
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],
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"gene_symbol": "MGC32805",
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"hgvs_c": "n.304-15530A>G",
"hgvs_p": null,
"transcript": "ENST00000505546.1",
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},
{
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"strand": false,
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],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "MGC32805",
"gene_hgnc_id": 28478,
"hgvs_c": "n.76+8541A>G",
"hgvs_p": null,
"transcript": "ENST00000506053.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "SNCAIP",
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"hgvs_c": "n.*1400-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000509023.5",
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},
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],
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"gene_symbol": "MGC32805",
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},
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],
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"gene_symbol": "SNCAIP",
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"hgvs_c": "n.*1557-3048T>C",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*1502-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000512146.6",
"protein_id": "ENSP00000423360.2",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.1740-3048T>C",
"hgvs_p": null,
"transcript": "ENST00000513719.1",
"protein_id": null,
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},
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"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001742867.2",
"gene_symbol": "LOC107986446",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.119-1109A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}