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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: 4-37902394-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=37902394&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 37902394,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001396959.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "NM_001396959.1",
"protein_id": "NP_001383888.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1262,
"cds_start": 299,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": "ENST00000698857.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "ENST00000698857.1",
"protein_id": "ENSP00000513987.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1262,
"cds_start": 299,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": "NM_001396959.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "ENST00000261439.9",
"protein_id": "ENSP00000261439.4",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 1168,
"cds_start": 299,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "NM_015173.4",
"protein_id": "NP_055988.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1168,
"cds_start": 299,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "NM_001253912.2",
"protein_id": "NP_001240841.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1159,
"cds_start": 299,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "ENST00000508802.5",
"protein_id": "ENSP00000423651.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 1159,
"cds_start": 299,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "ENST00000402522.1",
"protein_id": "ENSP00000383994.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 144,
"cds_start": 299,
"cds_end": null,
"cds_length": 435,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513659.3",
"protein_id": "XP_011511961.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1295,
"cds_start": 299,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513660.4",
"protein_id": "XP_011511962.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1282,
"cds_start": 299,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_005262646.4",
"protein_id": "XP_005262703.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1275,
"cds_start": 299,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513662.4",
"protein_id": "XP_011511964.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1255,
"cds_start": 299,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 657,
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"cdna_length": 5964,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513663.4",
"protein_id": "XP_011511965.1",
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"aa_start": 100,
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"aa_length": 1242,
"cds_start": 299,
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"cdna_start": 657,
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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": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513664.4",
"protein_id": "XP_011511966.1",
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"cds_start": 299,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.299G>A",
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"transcript": "XM_047449888.1",
"protein_id": "XP_047305844.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_017007918.3",
"protein_id": "XP_016863407.1",
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"aa_start": 100,
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"cds_start": 299,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_017007919.3",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_047449889.1",
"protein_id": "XP_047305845.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513665.4",
"protein_id": "XP_011511967.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
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"cdna_start": 657,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"transcript": "XM_011513666.4",
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},
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],
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.299G>A",
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"transcript": "XM_017007920.3",
"protein_id": "XP_016863409.1",
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"feature": null
},
{
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"consequences": [
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],
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
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"protein_id": "XP_047305846.1",
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"aa_start": 100,
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"cdna_start": 851,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "XM_011513668.3",
"protein_id": "XP_011511970.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 812,
"cds_start": 299,
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"cdna_start": 657,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"dbsnp": "rs749274148",
"frequency_reference_population": 0.000013010685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000129968,
"gnomad_genomes_af": 0.0000131437,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011966168880462646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0556,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.739,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001396959.1",
"gene_symbol": "TBC1D1",
"hgnc_id": 11578,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}