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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: 1-150082811-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150082811&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150082811,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000644510.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "NM_007259.5",
"protein_id": "NP_009190.2",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 570,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": "ENST00000644510.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000644510.2",
"protein_id": "ENSP00000495563.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 570,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": "NM_007259.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000698584.1",
"protein_id": "ENSP00000513813.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 651,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000644526.2",
"protein_id": "ENSP00000494363.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 643,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000698580.1",
"protein_id": "ENSP00000513809.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 595,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000698582.1",
"protein_id": "ENSP00000513811.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 582,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1068A>G",
"hgvs_p": "p.Glu356Glu",
"transcript": "ENST00000698587.1",
"protein_id": "ENSP00000513816.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 582,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1068A>G",
"hgvs_p": "p.Glu356Glu",
"transcript": "ENST00000698598.1",
"protein_id": "ENSP00000513825.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 582,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1029A>G",
"hgvs_p": "p.Glu343Glu",
"transcript": "ENST00000698590.1",
"protein_id": "ENSP00000513818.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 569,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000698581.1",
"protein_id": "ENSP00000513810.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 548,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Glu321Glu",
"transcript": "ENST00000698532.1",
"protein_id": "ENSP00000513778.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 547,
"cds_start": 963,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.960A>G",
"hgvs_p": "p.Glu320Glu",
"transcript": "ENST00000419023.4",
"protein_id": "ENSP00000400143.3",
"transcript_support_level": 3,
"aa_start": 320,
"aa_end": null,
"aa_length": 546,
"cds_start": 960,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000698578.1",
"protein_id": "ENSP00000513807.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 542,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.717A>G",
"hgvs_p": "p.Glu239Glu",
"transcript": "NM_001279353.2",
"protein_id": "NP_001266282.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 538,
"cds_start": 717,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.717A>G",
"hgvs_p": "p.Glu239Glu",
"transcript": "ENST00000369128.9",
"protein_id": "ENSP00000358124.5",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 538,
"cds_start": 717,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.936A>G",
"hgvs_p": "p.Glu312Glu",
"transcript": "ENST00000698597.1",
"protein_id": "ENSP00000513824.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 538,
"cds_start": 936,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.924A>G",
"hgvs_p": "p.Glu308Glu",
"transcript": "NM_001279354.2",
"protein_id": "NP_001266283.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 534,
"cds_start": 924,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.924A>G",
"hgvs_p": "p.Glu308Glu",
"transcript": "ENST00000643970.2",
"protein_id": "ENSP00000495148.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 534,
"cds_start": 924,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu",
"transcript": "ENST00000698528.1",
"protein_id": "ENSP00000513777.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 534,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.921A>G",
"hgvs_p": "p.Glu307Glu",
"transcript": "ENST00000698588.1",
"protein_id": "ENSP00000513817.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 533,
"cds_start": 921,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.897A>G",
"hgvs_p": "p.Glu299Glu",
"transcript": "ENST00000698533.1",
"protein_id": "ENSP00000513779.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 525,
"cds_start": 897,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.897A>G",
"hgvs_p": "p.Glu299Glu",
"transcript": "ENST00000698592.1",
"protein_id": "ENSP00000513820.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 525,
"cds_start": 897,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.825A>G",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"exon_rank": 10,
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"exon_count": 15,
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"transcript": "ENST00000642919.2",
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},
{
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"gene_symbol": "VPS45",
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"transcript": "ENST00000698579.1",
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},
{
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"gene_symbol": "VPS45",
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"transcript": "ENST00000698591.1",
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "VPS45",
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"hgvs_c": "c.936+814A>G",
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"transcript": "ENST00000698534.1",
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"feature": null
}
],
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"dbsnp": "rs74127419",
"frequency_reference_population": 0.008028384,
"hom_count_reference_population": 523,
"allele_count_reference_population": 12959,
"gnomad_exomes_af": 0.00532539,
"gnomad_genomes_af": 0.0339764,
"gnomad_exomes_ac": 7785,
"gnomad_genomes_ac": 5174,
"gnomad_exomes_homalt": 282,
"gnomad_genomes_homalt": 241,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.04,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000644510.2",
"gene_symbol": "VPS45",
"hgnc_id": 14579,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1032A>G",
"hgvs_p": "p.Glu344Glu"
}
],
"clinvar_disease": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}