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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: 13-31147971-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=31147971&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 31147971,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286504.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "NM_006644.4",
"protein_id": "NP_006635.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 858,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320027.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006644.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000320027.10",
"protein_id": "ENSP00000318687.5",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 858,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006644.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320027.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"transcript": "ENST00000630972.2",
"protein_id": "ENSP00000487365.1",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 860,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630972.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000380405.7",
"protein_id": "ENSP00000369768.4",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 814,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380405.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "n.*894G>A",
"hgvs_p": null,
"transcript": "ENST00000602786.5",
"protein_id": "ENSP00000473512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "n.*894G>A",
"hgvs_p": null,
"transcript": "ENST00000602786.5",
"protein_id": "ENSP00000473512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602786.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"transcript": "NM_001286504.1",
"protein_id": "NP_001273433.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 860,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286504.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000853999.1",
"protein_id": "ENSP00000524058.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 858,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853999.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000936549.1",
"protein_id": "ENSP00000606608.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 858,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936549.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "NM_001349704.2",
"protein_id": "NP_001336633.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 851,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349704.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000954004.1",
"protein_id": "ENSP00000624063.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 833,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954004.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Glu415Lys",
"transcript": "ENST00000936550.1",
"protein_id": "ENSP00000606609.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 817,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936550.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "NM_001286503.2",
"protein_id": "NP_001273432.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 814,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286503.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000954002.1",
"protein_id": "ENSP00000624061.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 814,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954002.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"transcript": "NM_001286505.1",
"protein_id": "NP_001273434.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 782,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286505.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"transcript": "ENST00000445273.6",
"protein_id": "ENSP00000396090.3",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 782,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445273.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Glu378Lys",
"transcript": "ENST00000954003.1",
"protein_id": "ENSP00000624062.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 780,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954003.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Glu415Lys",
"transcript": "ENST00000954005.1",
"protein_id": "ENSP00000624064.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 773,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954005.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Glu378Lys",
"transcript": "ENST00000954006.1",
"protein_id": "ENSP00000624065.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 736,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954006.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"transcript": "XM_011534887.4",
"protein_id": "XP_011533189.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 853,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534887.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"transcript": "XM_005266236.3",
"protein_id": "XP_005266293.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 816,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266236.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"transcript": "XM_017020362.3",
"protein_id": "XP_016875851.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 809,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "HSPH1",
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"feature": "XM_011534888.3"
},
{
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"consequences": [
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],
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"gene_symbol": "HSPH1",
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"feature": "XM_047430058.1"
},
{
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"missense_variant"
],
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"gene_symbol": "HSPH1",
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{
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"intron_variant"
],
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"gene_symbol": "HSPH1",
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"transcript": "ENST00000936551.1",
"protein_id": "ENSP00000606610.1",
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"biotype": "protein_coding",
"feature": "ENST00000936551.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 11,
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"gene_symbol": "HSPH1",
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"hgvs_c": "n.2013G>A",
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"transcript": "ENST00000626866.2",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000626866.2"
}
],
"gene_symbol": "HSPH1",
"gene_hgnc_id": 16969,
"dbsnp": "rs1956328375",
"frequency_reference_population": 0.0000020923974,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020924,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43606001138687134,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.859,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286504.1",
"gene_symbol": "HSPH1",
"hgnc_id": 16969,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys"
}
],
"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
}