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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: 8-105801037-GTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=105801037&ref=GTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 105801037,
"ref": "GTC",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000407775.7",
"consequences": [
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.965-4_965-3delCT",
"hgvs_p": null,
"transcript": "NM_012082.4",
"protein_id": "NP_036214.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "ENST00000407775.7",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.965-4_965-3delCT",
"hgvs_p": null,
"transcript": "ENST00000407775.7",
"protein_id": "ENSP00000384179.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "NM_012082.4",
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.806-4_806-3delCT",
"hgvs_p": null,
"transcript": "NM_001362836.2",
"protein_id": "NP_001349765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4802,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.569-4_569-3delCT",
"hgvs_p": null,
"transcript": "NM_001362837.2",
"protein_id": "NP_001349766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4629,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.569-4_569-3delCT",
"hgvs_p": null,
"transcript": "ENST00000517361.1",
"protein_id": "ENSP00000428720.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3300,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.569-4_569-3delCT",
"hgvs_p": null,
"transcript": "ENST00000520492.5",
"protein_id": "ENSP00000430757.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3960,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.140-2597_140-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000509144.2",
"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": 542,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.66-2597_66-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000518932.5",
"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": 649,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.149-2597_149-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000520078.5",
"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": 500,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.212-2597_212-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000520433.5",
"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,
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"cdna_length": 748,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.155-2597_155-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000520594.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.279-2597_279-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000521622.1",
"protein_id": null,
"transcript_support_level": 3,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "n.759-4_759-3delCT",
"hgvs_p": null,
"transcript": "ENST00000522296.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.154-2597_154-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000524045.6",
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.69-2597_69-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000659633.1",
"protein_id": null,
"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": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.184-2597_184-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000821409.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.164-2597_164-2596delGA",
"hgvs_p": null,
"transcript": "ENST00000821410.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.180-2597_180-2596delGA",
"hgvs_p": null,
"transcript": "NR_125796.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.191-2597_191-2596delGA",
"hgvs_p": null,
"transcript": "NR_125797.1",
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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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.698-4_698-3delCT",
"hgvs_p": null,
"transcript": "XM_047421627.1",
"protein_id": "XP_047277583.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.569-4_569-3delCT",
"hgvs_p": null,
"transcript": "XM_047421628.1",
"protein_id": "XP_047277584.1",
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.569-4_569-3delCT",
"hgvs_p": null,
"transcript": "XM_047421629.1",
"protein_id": "XP_047277585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
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"cds_length": 3060,
"cdna_start": null,
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"cdna_length": 11797,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
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{
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{
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},
{
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}
],
"gene_symbol": "ZFPM2",
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"dbsnp": "rs147661076",
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"hom_count_reference_population": 20,
"allele_count_reference_population": 2437,
"gnomad_exomes_af": 0.000853147,
"gnomad_genomes_af": 0.00791721,
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"gnomad_genomes_ac": 1205,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.473,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000407775.7",
"gene_symbol": "ZFPM2",
"hgnc_id": 16700,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.965-4_965-3delCT",
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},
{
"score": -16,
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"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000518932.5",
"gene_symbol": "ZFPM2-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.66-2597_66-2596delGA",
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}
],
"clinvar_disease": "46,XY sex reversal 9,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "46,XY sex reversal 9|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}