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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: 17-7550934-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7550934&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7550934,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000293826.4",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "c.338-9A>G",
"hgvs_p": null,
"transcript": "NM_003809.3",
"protein_id": "NP_003800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "ENST00000293825.11",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "c.338-9A>G",
"hgvs_p": null,
"transcript": "ENST00000293825.11",
"protein_id": "ENSP00000293825.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "NM_003809.3",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12-TNFSF13",
"gene_hgnc_id": 33537,
"hgvs_c": "c.338-9A>G",
"hgvs_p": null,
"transcript": "ENST00000293826.4",
"protein_id": "ENSP00000293826.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1816,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.338-9A>G",
"hgvs_p": null,
"transcript": "ENST00000322272.11",
"protein_id": "ENSP00000314636.7",
"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": 1625,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12-TNFSF13",
"gene_hgnc_id": 33537,
"hgvs_c": "c.338-9A>G",
"hgvs_p": null,
"transcript": "NM_172089.4",
"protein_id": "NP_742086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "c.341-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700015.1",
"protein_id": "ENSP00000514756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "c.335-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700053.1",
"protein_id": "ENSP00000514765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1363,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "c.338-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700051.1",
"protein_id": "ENSP00000514763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": -4,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1270,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "c.338-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700052.1",
"protein_id": "ENSP00000514764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1252,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.455-9A>G",
"hgvs_p": null,
"transcript": "ENST00000462619.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 1407,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.176-9A>G",
"hgvs_p": null,
"transcript": "ENST00000462811.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1128,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.184-9A>G",
"hgvs_p": null,
"transcript": "ENST00000650738.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 418,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.*48-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700014.1",
"protein_id": "ENSP00000514755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 985,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.340-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700047.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
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"hgvs_c": "n.582-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700048.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.334-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700049.1",
"protein_id": null,
"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": [
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "TNFSF12",
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"hgvs_c": "n.346-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700050.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.*48-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700054.1",
"protein_id": "ENSP00000514766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.421-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700055.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
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"hgvs_c": "n.341-9A>G",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.187-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700057.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.440-9A>G",
"hgvs_p": null,
"transcript": "ENST00000700058.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 1392,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF12",
"gene_hgnc_id": 11927,
"hgvs_c": "n.434-9A>G",
"hgvs_p": null,
"transcript": "NR_037146.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNFSF12-TNFSF13",
"gene_hgnc_id": 33537,
"dbsnp": "rs114577645",
"frequency_reference_population": 0.0030141084,
"hom_count_reference_population": 106,
"allele_count_reference_population": 4865,
"gnomad_exomes_af": 0.00172177,
"gnomad_genomes_af": 0.0154261,
"gnomad_exomes_ac": 2517,
"gnomad_genomes_ac": 2348,
"gnomad_exomes_homalt": 57,
"gnomad_genomes_homalt": 49,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.022,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000640114870422198,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000293826.4",
"gene_symbol": "TNFSF12-TNFSF13",
"hgnc_id": 33537,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.338-9A>G",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000293825.11",
"gene_symbol": "TNFSF12",
"hgnc_id": 11927,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.338-9A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Common variable immunodeficiency,TNFSF12-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Common variable immunodeficiency|TNFSF12-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}