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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: 10-87754755-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87754755&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87754755,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032810.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "NM_001321967.2",
"protein_id": "NP_001308896.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000680024.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321967.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000680024.1",
"protein_id": "ENSP00000506333.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_001321967.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680024.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000328142.3",
"protein_id": "ENSP00000339016.2",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328142.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1042A>G",
"hgvs_p": "p.Ile348Val",
"transcript": "ENST00000944904.1",
"protein_id": "ENSP00000614963.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 369,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944904.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1042A>G",
"hgvs_p": "p.Ile348Val",
"transcript": "ENST00000944905.1",
"protein_id": "ENSP00000614964.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 369,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944905.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "NM_032810.4",
"protein_id": "NP_116199.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032810.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000308448.11",
"protein_id": "ENSP00000339017.4",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308448.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852089.1",
"protein_id": "ENSP00000522148.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852089.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852092.1",
"protein_id": "ENSP00000522151.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852092.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852098.1",
"protein_id": "ENSP00000522157.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852098.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852100.1",
"protein_id": "ENSP00000522159.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852100.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852101.1",
"protein_id": "ENSP00000522160.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852101.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852102.1",
"protein_id": "ENSP00000522161.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
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"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000852103.1",
"protein_id": "ENSP00000522162.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
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"cds_start": 1018,
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"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852103.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000940754.1",
"protein_id": "ENSP00000610813.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
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"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940754.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000944899.1",
"protein_id": "ENSP00000614958.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944899.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000944906.1",
"protein_id": "ENSP00000614965.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944906.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000944907.1",
"protein_id": "ENSP00000614966.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
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"cdna_start": 1101,
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"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944907.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ile340Val",
"transcript": "ENST00000944908.1",
"protein_id": "ENSP00000614967.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 361,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944908.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Ile332Val",
"transcript": "ENST00000852094.1",
"protein_id": "ENSP00000522153.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 353,
"cds_start": 994,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852094.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Ile332Val",
"transcript": "ENST00000944900.1",
"protein_id": "ENSP00000614959.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 353,
"cds_start": 994,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944900.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Ile323Val",
"transcript": "ENST00000944901.1",
"protein_id": "ENSP00000614960.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 344,
"cds_start": 967,
"cds_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}