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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: 5-138558563-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138558563&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138558563,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004134.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg",
"transcript": "NM_004134.7",
"protein_id": "NP_004125.3",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 679,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297185.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004134.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg",
"transcript": "ENST00000297185.9",
"protein_id": "ENSP00000297185.3",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 679,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004134.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297185.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1688A>G",
"hgvs_p": "p.Gln563Arg",
"transcript": "ENST00000946847.1",
"protein_id": "ENSP00000616906.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 740,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946847.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1523A>G",
"hgvs_p": "p.Gln508Arg",
"transcript": "ENST00000936338.1",
"protein_id": "ENSP00000606397.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 685,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936338.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1499A>G",
"hgvs_p": "p.Gln500Arg",
"transcript": "ENST00000946842.1",
"protein_id": "ENSP00000616901.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 677,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946842.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1496A>G",
"hgvs_p": "p.Gln499Arg",
"transcript": "ENST00000852879.1",
"protein_id": "ENSP00000522938.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 676,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852879.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg",
"transcript": "ENST00000946845.1",
"protein_id": "ENSP00000616904.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 676,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946845.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg",
"transcript": "ENST00000936335.1",
"protein_id": "ENSP00000606394.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 675,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936335.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Gln495Arg",
"transcript": "ENST00000946846.1",
"protein_id": "ENSP00000616905.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 672,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946846.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg",
"transcript": "ENST00000507115.6",
"protein_id": "ENSP00000423759.2",
"transcript_support_level": 3,
"aa_start": 502,
"aa_end": null,
"aa_length": 665,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507115.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg",
"transcript": "ENST00000852881.1",
"protein_id": "ENSP00000522940.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 660,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852881.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1412A>G",
"hgvs_p": "p.Gln471Arg",
"transcript": "ENST00000677425.1",
"protein_id": "ENSP00000503066.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 648,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677425.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1298A>G",
"hgvs_p": "p.Gln433Arg",
"transcript": "ENST00000677066.1",
"protein_id": "ENSP00000502902.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 610,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677066.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1298A>G",
"hgvs_p": "p.Gln433Arg",
"transcript": "ENST00000678300.1",
"protein_id": "ENSP00000503259.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 610,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678300.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1298A>G",
"hgvs_p": "p.Gln433Arg",
"transcript": "ENST00000678384.1",
"protein_id": "ENSP00000503992.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 610,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678384.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1295A>G",
"hgvs_p": "p.Gln432Arg",
"transcript": "ENST00000946844.1",
"protein_id": "ENSP00000616903.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 609,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946844.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1277A>G",
"hgvs_p": "p.Gln426Arg",
"transcript": "ENST00000677064.1",
"protein_id": "ENSP00000503373.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 603,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677064.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1199A>G",
"hgvs_p": "p.Gln400Arg",
"transcript": "ENST00000678051.1",
"protein_id": "ENSP00000503219.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 577,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678051.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Gln395Arg",
"transcript": "ENST00000946848.1",
"protein_id": "ENSP00000616907.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 572,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946848.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Gln356Arg",
"transcript": "ENST00000936340.1",
"protein_id": "ENSP00000606399.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 533,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936340.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.Gln324Arg",
"transcript": "ENST00000936337.1",
"protein_id": "ENSP00000606396.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 501,
"cds_start": 971,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936337.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Gln254Arg",
"transcript": "ENST00000936341.1",
"protein_id": "ENSP00000606400.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 431,
"cds_start": 761,
"cds_end": null,
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{
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{
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{
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],
"gene_symbol": "HSPA9",
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"dbsnp": "rs1464354488",
"frequency_reference_population": 0.000018755298,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
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"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": 28,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4692811369895935,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2532,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.886,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_004134.7",
"gene_symbol": "HSPA9",
"hgnc_id": 5244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Gln502Arg"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000762014.1",
"gene_symbol": "ENSG00000299264",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.153+15159T>C",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}