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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: 17-63074016-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63074016&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63074016,
"ref": "T",
"alt": "A",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001394998.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "NM_001394998.1",
"protein_id": "NP_001381927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2074,
"cds_start": -4,
"cds_end": null,
"cds_length": 6225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12511,
"mane_select": "ENST00000689528.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "ENST00000689528.1",
"protein_id": "ENSP00000510600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2074,
"cds_start": -4,
"cds_end": null,
"cds_length": 6225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12511,
"mane_select": "NM_001394998.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "ENST00000424789.6",
"protein_id": "ENSP00000387593.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1990,
"cds_start": -4,
"cds_end": null,
"cds_length": 5973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11721,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "NM_001411076.1",
"protein_id": "NP_001398005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2000,
"cds_start": -4,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12289,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "ENST00000389520.8",
"protein_id": "ENSP00000374171.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2000,
"cds_start": -4,
"cds_end": null,
"cds_length": 6003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6404,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "NM_025185.4",
"protein_id": "NP_079461.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1990,
"cds_start": -4,
"cds_end": null,
"cds_length": 5973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12259,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.70+2T>A",
"hgvs_p": null,
"transcript": "ENST00000580068.5",
"protein_id": "ENSP00000463062.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 456,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.55+2T>A",
"hgvs_p": null,
"transcript": "ENST00000580466.1",
"protein_id": "ENSP00000463959.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 331,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_011524597.3",
"protein_id": "XP_011522899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2075,
"cds_start": -4,
"cds_end": null,
"cds_length": 6228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12514,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_011524598.3",
"protein_id": "XP_011522900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2065,
"cds_start": -4,
"cds_end": null,
"cds_length": 6198,
"cdna_start": null,
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"cdna_length": 12484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_006721807.4",
"protein_id": "XP_006721870.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2064,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
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"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.91+2T>A",
"hgvs_p": null,
"transcript": "XM_011524599.2",
"protein_id": "XP_011522901.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
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"gene_symbol": "TANC2",
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"hgvs_c": "c.91+2T>A",
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"transcript": "XM_017024429.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 3,
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"gene_symbol": "TANC2",
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"hgvs_c": "c.139+2T>A",
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"transcript": "XM_011524600.3",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_011524601.3",
"protein_id": "XP_011522903.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 3,
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"gene_symbol": "TANC2",
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"hgvs_c": "c.139+2T>A",
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"transcript": "XM_047435731.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_047435732.1",
"protein_id": "XP_047291688.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_047435733.1",
"protein_id": "XP_047291689.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
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"hgvs_c": "c.139+2T>A",
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},
{
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"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
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"hgvs_c": "c.91+2T>A",
"hgvs_p": null,
"transcript": "XM_047435735.1",
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},
{
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"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
"hgvs_p": null,
"transcript": "XM_011524602.3",
"protein_id": "XP_011522904.1",
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"aa_start": null,
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"aa_length": 2001,
"cds_start": -4,
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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": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.91+2T>A",
"hgvs_p": null,
"transcript": "XM_047435737.1",
"protein_id": "XP_047291693.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1985,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 3,
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"gene_symbol": "TANC2",
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"hgvs_c": "c.139+2T>A",
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"transcript": "XM_006721810.4",
"protein_id": "XP_006721873.1",
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"aa_start": null,
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"aa_length": 1409,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 12410,
"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_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 3,
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"gene_symbol": "TANC2",
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"hgvs_c": "c.139+2T>A",
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"transcript": "XM_006721811.5",
"protein_id": "XP_006721874.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": -4,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
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"cdna_length": 12380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
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"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"hgvs_c": "c.139+2T>A",
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"transcript": "XM_047435738.1",
"protein_id": "XP_047291694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": -4,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TANC2",
"gene_hgnc_id": 30212,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28999999165534973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9259999990463257,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.965,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999989917668626,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001394998.1",
"gene_symbol": "TANC2",
"hgnc_id": 30212,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.139+2T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}