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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: 2-63882500-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63882500&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63882500,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006759.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Leu97Ser",
"transcript": "NM_006759.4",
"protein_id": "NP_006750.3",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 508,
"cds_start": 290,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "ENST00000337130.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Leu97Ser",
"transcript": "ENST00000337130.10",
"protein_id": "ENSP00000338703.5",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 508,
"cds_start": 290,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "NM_006759.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000394417.7",
"protein_id": "ENSP00000377939.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 497,
"cds_start": 257,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000467648.6",
"protein_id": "ENSP00000420793.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 497,
"cds_start": 257,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.389T>C",
"hgvs_p": null,
"transcript": "ENST00000475550.5",
"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": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.317T>C",
"hgvs_p": "p.Leu106Ser",
"transcript": "ENST00000445915.6",
"protein_id": "ENSP00000411803.2",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 517,
"cds_start": 317,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "NM_001001521.2",
"protein_id": "NP_001001521.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 497,
"cds_start": 257,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "NM_001377524.1",
"protein_id": "NP_001364453.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 497,
"cds_start": 257,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "NM_001377525.1",
"protein_id": "NP_001364454.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 497,
"cds_start": 257,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000613823.2",
"protein_id": "ENSP00000482043.2",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 463,
"cds_start": 257,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000677841.1",
"protein_id": "ENSP00000502898.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 460,
"cds_start": 257,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000491621.5",
"protein_id": "ENSP00000420342.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 211,
"cds_start": 257,
"cds_end": null,
"cds_length": 638,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Leu89Ser",
"transcript": "ENST00000497883.5",
"protein_id": "ENSP00000420131.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 174,
"cds_start": 266,
"cds_end": null,
"cds_length": 525,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000475462.5",
"protein_id": "ENSP00000419335.1",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 169,
"cds_start": 257,
"cds_end": null,
"cds_length": 512,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000472047.5",
"protein_id": "ENSP00000419238.1",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 149,
"cds_start": 257,
"cds_end": null,
"cds_length": 452,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000488245.6",
"protein_id": "ENSP00000419442.2",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 134,
"cds_start": 257,
"cds_end": null,
"cds_length": 406,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "ENST00000482668.5",
"protein_id": "ENSP00000419548.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 103,
"cds_start": 257,
"cds_end": null,
"cds_length": 314,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Leu86Ser",
"transcript": "XM_024453120.2",
"protein_id": "XP_024308888.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 497,
"cds_start": 257,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.*267T>C",
"hgvs_p": null,
"transcript": "ENST00000466642.5",
"protein_id": "ENSP00000418619.1",
"transcript_support_level": 4,
"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": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.*114T>C",
"hgvs_p": null,
"transcript": "ENST00000467400.5",
"protein_id": "ENSP00000419019.1",
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.*433T>C",
"hgvs_p": null,
"transcript": "ENST00000467999.6",
"protein_id": "ENSP00000418642.2",
"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": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.*205T>C",
"hgvs_p": null,
"transcript": "ENST00000483108.5",
"protein_id": "ENSP00000417801.1",
"transcript_support_level": 4,
"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": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.275T>C",
"hgvs_p": null,
"transcript": "ENST00000483461.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
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],
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},
{
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"transcript": "ENST00000676780.1",
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},
{
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],
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"gene_symbol": "UGP2",
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"transcript": "ENST00000678951.1",
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},
{
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
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"gene_symbol": "UGP2",
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"hgvs_c": "n.*348T>C",
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"transcript": "ENST00000679256.1",
"protein_id": "ENSP00000504563.1",
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"cdna_length": 1798,
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"feature": null
}
],
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"dbsnp": "rs750024855",
"frequency_reference_population": 0.0000056004,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000481157,
"gnomad_genomes_af": 0.0000131406,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20053133368492126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.3423,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.159,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006759.4",
"gene_symbol": "UGP2",
"hgnc_id": 12527,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Leu97Ser"
}
],
"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
}