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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: 2-85600381-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85600381&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85600381,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001031738.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "NM_001031738.3",
"protein_id": "NP_001026908.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": "ENST00000334462.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031738.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000334462.10",
"protein_id": "ENSP00000334708.5",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": "NM_001031738.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334462.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Leu86Phe",
"transcript": "ENST00000898692.1",
"protein_id": "ENSP00000568751.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 279,
"cds_start": 256,
"cds_end": null,
"cds_length": 840,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898692.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "NM_001369917.1",
"protein_id": "NP_001356846.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369917.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000409668.1",
"protein_id": "ENSP00000387292.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409668.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000898691.1",
"protein_id": "ENSP00000568750.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898691.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000898694.1",
"protein_id": "ENSP00000568753.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898694.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000923606.1",
"protein_id": "ENSP00000593665.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923606.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000959580.1",
"protein_id": "ENSP00000629639.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959580.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000898693.1",
"protein_id": "ENSP00000568752.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 269,
"cds_start": 232,
"cds_end": null,
"cds_length": 810,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898693.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "ENST00000959579.1",
"protein_id": "ENSP00000629638.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 269,
"cds_start": 232,
"cds_end": null,
"cds_length": 810,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959579.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000898695.1",
"protein_id": "ENSP00000568754.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 255,
"cds_start": 184,
"cds_end": null,
"cds_length": 768,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898695.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Phe",
"transcript": "ENST00000923607.1",
"protein_id": "ENSP00000593666.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 255,
"cds_start": 184,
"cds_end": null,
"cds_length": 768,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923607.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "XM_006711930.4",
"protein_id": "XP_006711993.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711930.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe",
"transcript": "XM_006711931.4",
"protein_id": "XP_006711994.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 271,
"cds_start": 232,
"cds_end": null,
"cds_length": 816,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711931.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Leu54Phe",
"transcript": "XM_011532505.3",
"protein_id": "XP_011530807.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 247,
"cds_start": 160,
"cds_end": null,
"cds_length": 744,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532505.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Phe",
"transcript": "XM_011532507.3",
"protein_id": "XP_011530809.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 224,
"cds_start": 91,
"cds_end": null,
"cds_length": 675,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532507.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Leu31Phe",
"transcript": "XM_017003305.2",
"protein_id": "XP_016858794.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 224,
"cds_start": 91,
"cds_end": null,
"cds_length": 675,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003305.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.110-363C>T",
"hgvs_p": null,
"transcript": "NM_153342.4",
"protein_id": "NP_699173.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153342.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.110-363C>T",
"hgvs_p": null,
"transcript": "ENST00000425160.1",
"protein_id": "ENSP00000394945.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.110-363C>T",
"hgvs_p": null,
"transcript": "XM_011532508.3",
"protein_id": "XP_011530810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532508.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.110-363C>T",
"hgvs_p": null,
"transcript": "XM_047443258.1",
"protein_id": "XP_047299214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
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],
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"dbsnp": "rs1288707839",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4195731282234192,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.2024,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.174,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031738.3",
"gene_symbol": "TMEM150A",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Leu78Phe"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}