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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: 2-85599997-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85599997&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85599997,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001031738.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "NM_001031738.3",
"protein_id": "NP_001026908.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": "ENST00000334462.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031738.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000334462.10",
"protein_id": "ENSP00000334708.5",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": "NM_001031738.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334462.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Arg105Leu",
"transcript": "ENST00000898692.1",
"protein_id": "ENSP00000568751.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 279,
"cds_start": 314,
"cds_end": null,
"cds_length": 840,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898692.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "NM_001369917.1",
"protein_id": "NP_001356846.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369917.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000409668.1",
"protein_id": "ENSP00000387292.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409668.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000898691.1",
"protein_id": "ENSP00000568750.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898691.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000898694.1",
"protein_id": "ENSP00000568753.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898694.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000923606.1",
"protein_id": "ENSP00000593665.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923606.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000959580.1",
"protein_id": "ENSP00000629639.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959580.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000898693.1",
"protein_id": "ENSP00000568752.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 269,
"cds_start": 290,
"cds_end": null,
"cds_length": 810,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898693.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "ENST00000959579.1",
"protein_id": "ENSP00000629638.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 269,
"cds_start": 290,
"cds_end": null,
"cds_length": 810,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959579.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.242G>T",
"hgvs_p": "p.Arg81Leu",
"transcript": "ENST00000898695.1",
"protein_id": "ENSP00000568754.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 255,
"cds_start": 242,
"cds_end": null,
"cds_length": 768,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898695.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.242G>T",
"hgvs_p": "p.Arg81Leu",
"transcript": "ENST00000923607.1",
"protein_id": "ENSP00000593666.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 255,
"cds_start": 242,
"cds_end": null,
"cds_length": 768,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923607.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Arg44Leu",
"transcript": "NM_153342.4",
"protein_id": "NP_699173.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 218,
"cds_start": 131,
"cds_end": null,
"cds_length": 657,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153342.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Arg44Leu",
"transcript": "ENST00000425160.1",
"protein_id": "ENSP00000394945.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 66,
"cds_start": 131,
"cds_end": null,
"cds_length": 201,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425160.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "XM_006711930.4",
"protein_id": "XP_006711993.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711930.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "XM_006711931.4",
"protein_id": "XP_006711994.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 271,
"cds_start": 290,
"cds_end": null,
"cds_length": 816,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711931.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.218G>T",
"hgvs_p": "p.Arg73Leu",
"transcript": "XM_011532505.3",
"protein_id": "XP_011530807.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 247,
"cds_start": 218,
"cds_end": null,
"cds_length": 744,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532505.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_011532507.3",
"protein_id": "XP_011530809.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 224,
"cds_start": 149,
"cds_end": null,
"cds_length": 675,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532507.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_017003305.2",
"protein_id": "XP_016858794.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 224,
"cds_start": 149,
"cds_end": null,
"cds_length": 675,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003305.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Arg44Leu",
"transcript": "XM_011532508.3",
"protein_id": "XP_011530810.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 218,
"cds_start": 131,
"cds_end": null,
"cds_length": 657,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532508.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Arg44Leu",
"transcript": "XM_047443258.1",
"protein_id": "XP_047299214.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 218,
"cds_start": 131,
"cds_end": null,
"cds_length": 657,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
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{
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],
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],
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8196150064468384,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6099,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.799,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031738.3",
"gene_symbol": "TMEM150A",
"hgnc_id": 24677,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.290G>T",
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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
}