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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: 21-46287125-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46287125&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46287125,
"ref": "TA",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000397701.9",
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "NM_001314025.2",
"protein_id": "NP_001300954.1",
"transcript_support_level": null,
"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": 739,
"mane_select": "ENST00000397701.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+3delA",
"hgvs_p": null,
"transcript": "ENST00000397701.9",
"protein_id": "ENSP00000380813.4",
"transcript_support_level": 2,
"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": 739,
"mane_select": "NM_001314025.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+3delA",
"hgvs_p": null,
"transcript": "ENST00000329319.7",
"protein_id": "ENSP00000329614.3",
"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": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+3delA",
"hgvs_p": null,
"transcript": "ENST00000339195.10",
"protein_id": "ENSP00000340675.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 890,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.75+138delA",
"hgvs_p": null,
"transcript": "ENST00000397694.5",
"protein_id": "ENSP00000380808.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.75+138delA",
"hgvs_p": null,
"transcript": "ENST00000397692.5",
"protein_id": "ENSP00000380806.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "n.315+3delA",
"hgvs_p": null,
"transcript": "ENST00000468924.5",
"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": 912,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "NM_058181.3",
"protein_id": "NP_478061.1",
"transcript_support_level": null,
"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": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+3delA",
"hgvs_p": null,
"transcript": "ENST00000397691.1",
"protein_id": "ENSP00000380805.1",
"transcript_support_level": 3,
"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": 764,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "NM_001314022.2",
"protein_id": "NP_001300951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 932,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.75+147delA",
"hgvs_p": null,
"transcript": "NM_001314023.2",
"protein_id": "NP_001300952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
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"cds_length": 369,
"cdna_start": null,
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"cdna_length": 604,
"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": 3,
"intron_rank": 2,
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"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "NM_001006114.3",
"protein_id": "NP_001006114.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 366,
"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": 3,
"intron_rank": 2,
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"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "NM_001314026.2",
"protein_id": "NP_001300955.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 121,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.75+147delA",
"hgvs_p": null,
"transcript": "NM_001314024.2",
"protein_id": "NP_001300953.1",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "YBEY",
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"hgvs_c": "n.538+3delA",
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"transcript": "ENST00000492864.1",
"protein_id": null,
"transcript_support_level": 2,
"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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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "XM_011529629.3",
"protein_id": "XP_011527931.1",
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},
{
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],
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"gene_symbol": "YBEY",
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"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "XM_011529630.3",
"protein_id": "XP_011527932.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "XM_011529635.3",
"protein_id": "XP_011527937.1",
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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,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
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"transcript": "XM_011529631.3",
"protein_id": "XP_011527933.1",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "YBEY",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "YBEY",
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"transcript": "XM_047440898.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "XM_011529634.3",
"protein_id": "XP_011527936.3",
"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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"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YBEY",
"gene_hgnc_id": 1299,
"hgvs_c": "c.210+12delA",
"hgvs_p": null,
"transcript": "XM_047440899.1",
"protein_id": "XP_047296855.1",
"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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}
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}