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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: 10-77811115-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77811115&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 77811115,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000372391.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4442C>A",
"hgvs_p": "p.Pro1481Gln",
"transcript": "NM_004747.4",
"protein_id": "NP_004738.3",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1919,
"cds_start": 4442,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 4677,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "ENST00000372391.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4442C>A",
"hgvs_p": "p.Pro1481Gln",
"transcript": "ENST00000372391.7",
"protein_id": "ENSP00000361467.2",
"transcript_support_level": 1,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1919,
"cds_start": 4442,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 4677,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "NM_004747.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Pro442Gln",
"transcript": "ENST00000424842.5",
"protein_id": "ENSP00000394797.1",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 880,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.1497C>A",
"hgvs_p": null,
"transcript": "ENST00000459739.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.1070C>A",
"hgvs_p": null,
"transcript": "ENST00000463362.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4430C>A",
"hgvs_p": "p.Pro1477Gln",
"transcript": "XM_005270276.5",
"protein_id": "XP_005270333.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1915,
"cds_start": 4430,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 4665,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4265C>A",
"hgvs_p": "p.Pro1422Gln",
"transcript": "XM_011540341.4",
"protein_id": "XP_011538643.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4265,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4637,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4172C>A",
"hgvs_p": "p.Pro1391Gln",
"transcript": "XM_011540342.2",
"protein_id": "XP_011538644.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1829,
"cds_start": 4172,
"cds_end": null,
"cds_length": 5490,
"cdna_start": 4211,
"cdna_end": null,
"cdna_length": 7178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4160C>A",
"hgvs_p": "p.Pro1387Gln",
"transcript": "XM_017016913.2",
"protein_id": "XP_016872402.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4160,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4112C>A",
"hgvs_p": "p.Pro1371Gln",
"transcript": "XM_017016914.2",
"protein_id": "XP_016872403.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1809,
"cds_start": 4112,
"cds_end": null,
"cds_length": 5430,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4112C>A",
"hgvs_p": "p.Pro1371Gln",
"transcript": "XM_047425998.1",
"protein_id": "XP_047281954.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1809,
"cds_start": 4112,
"cds_end": null,
"cds_length": 5430,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4106C>A",
"hgvs_p": "p.Pro1369Gln",
"transcript": "XM_011540344.3",
"protein_id": "XP_011538646.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1807,
"cds_start": 4106,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 4203,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3977C>A",
"hgvs_p": "p.Pro1326Gln",
"transcript": "XM_011540345.2",
"protein_id": "XP_011538647.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1764,
"cds_start": 3977,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4120,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3977C>A",
"hgvs_p": "p.Pro1326Gln",
"transcript": "XM_047426000.1",
"protein_id": "XP_047281956.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1764,
"cds_start": 3977,
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"cds_length": 5295,
"cdna_start": 4281,
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"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3965C>A",
"hgvs_p": "p.Pro1322Gln",
"transcript": "XM_047426001.1",
"protein_id": "XP_047281957.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1760,
"cds_start": 3965,
"cds_end": null,
"cds_length": 5283,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.4442C>A",
"hgvs_p": "p.Pro1481Gln",
"transcript": "XM_011540346.3",
"protein_id": "XP_011538648.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4442,
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"cdna_start": 4677,
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"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3524C>A",
"hgvs_p": "p.Pro1175Gln",
"transcript": "XM_011540347.3",
"protein_id": "XP_011538649.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1613,
"cds_start": 3524,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 6658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3524C>A",
"hgvs_p": "p.Pro1175Gln",
"transcript": "XM_017016915.2",
"protein_id": "XP_016872404.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1613,
"cds_start": 3524,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4729,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Pro1141Gln",
"transcript": "XM_006718056.4",
"protein_id": "XP_006718119.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1579,
"cds_start": 3422,
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"cdna_start": 3657,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.2987C>A",
"hgvs_p": "p.Pro996Gln",
"transcript": "XM_024448250.2",
"protein_id": "XP_024304018.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1434,
"cds_start": 2987,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 3146,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.*3799C>A",
"hgvs_p": null,
"transcript": "ENST00000468332.6",
"protein_id": "ENSP00000473298.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.4279C>A",
"hgvs_p": null,
"transcript": "ENST00000475613.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.269C>A",
"hgvs_p": null,
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"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "DLG5",
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"transcript": "ENST00000468332.6",
"protein_id": "ENSP00000473298.1",
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"cdna_length": 5505,
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"feature": null
}
],
"gene_symbol": "DLG5",
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"dbsnp": "rs2289310",
"frequency_reference_population": 0.043372996,
"hom_count_reference_population": 2215,
"allele_count_reference_population": 69866,
"gnomad_exomes_af": 0.0432614,
"gnomad_genomes_af": 0.0444446,
"gnomad_exomes_ac": 63113,
"gnomad_genomes_ac": 6753,
"gnomad_exomes_homalt": 1983,
"gnomad_genomes_homalt": 232,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017066597938537598,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.978,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372391.7",
"gene_symbol": "DLG5",
"hgnc_id": 2904,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4442C>A",
"hgvs_p": "p.Pro1481Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}