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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: 16-31191069-T-TGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31191069&ref=T&alt=TGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31191069,
"ref": "T",
"alt": "TGGG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_004960.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1502_1504dupGGG",
"hgvs_p": "p.Gly501dup",
"transcript": "NM_004960.4",
"protein_id": "NP_004951.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 526,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": "ENST00000254108.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004960.4"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1502_1504dupGGG",
"hgvs_p": "p.Gly501dup",
"transcript": "ENST00000254108.12",
"protein_id": "ENSP00000254108.8",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 526,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": "NM_004960.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254108.12"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1499_1501dupGGG",
"hgvs_p": "p.Gly500dup",
"transcript": "ENST00000380244.8",
"protein_id": "ENSP00000369594.3",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 525,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380244.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.*675_*677dupGGG",
"hgvs_p": null,
"transcript": "ENST00000566605.5",
"protein_id": "ENSP00000455073.1",
"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": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566605.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "n.*675_*677dupGGG",
"hgvs_p": null,
"transcript": "ENST00000566605.5",
"protein_id": "ENSP00000455073.1",
"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": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566605.5"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1523_1525dupGGG",
"hgvs_p": "p.Gly508dup",
"transcript": "ENST00000925805.1",
"protein_id": "ENSP00000595863.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 533,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925805.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1520_1522dupGGG",
"hgvs_p": "p.Gly507dup",
"transcript": "ENST00000948616.1",
"protein_id": "ENSP00000618675.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 532,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948616.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1505_1507dupGGG",
"hgvs_p": "p.Gly502dup",
"transcript": "ENST00000568685.1",
"protein_id": "ENSP00000455282.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 527,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568685.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1502_1504dupGGG",
"hgvs_p": "p.Gly501dup",
"transcript": "ENST00000875021.1",
"protein_id": "ENSP00000545080.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 526,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875021.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1499_1501dupGGG",
"hgvs_p": "p.Gly500dup",
"transcript": "NM_001170634.1",
"protein_id": "NP_001164105.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 525,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170634.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1496_1498dupGGG",
"hgvs_p": "p.Gly499dup",
"transcript": "ENST00000715542.1",
"protein_id": "ENSP00000520462.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 524,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715542.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1496_1498dupGGG",
"hgvs_p": "p.Gly499dup",
"transcript": "ENST00000875027.1",
"protein_id": "ENSP00000545086.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 524,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875027.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1496_1498dupGGG",
"hgvs_p": "p.Gly499dup",
"transcript": "ENST00000948617.1",
"protein_id": "ENSP00000618676.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 524,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948617.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1493_1495dupGGG",
"hgvs_p": "p.Gly498dup",
"transcript": "ENST00000875023.1",
"protein_id": "ENSP00000545082.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 523,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875023.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1493_1495dupGGG",
"hgvs_p": "p.Gly498dup",
"transcript": "ENST00000875028.1",
"protein_id": "ENSP00000545087.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 523,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875028.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1493_1495dupGGG",
"hgvs_p": "p.Gly498dup",
"transcript": "ENST00000925796.1",
"protein_id": "ENSP00000595855.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 523,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925796.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1493_1495dupGGG",
"hgvs_p": "p.Gly498dup",
"transcript": "ENST00000948618.1",
"protein_id": "ENSP00000618677.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 523,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948618.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1490_1492dupGGG",
"hgvs_p": "p.Gly497dup",
"transcript": "NM_001170937.1",
"protein_id": "NP_001164408.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 522,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170937.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1484_1486dupGGG",
"hgvs_p": "p.Gly495dup",
"transcript": "ENST00000875024.1",
"protein_id": "ENSP00000545083.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 520,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875024.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1484_1486dupGGG",
"hgvs_p": "p.Gly495dup",
"transcript": "ENST00000875033.1",
"protein_id": "ENSP00000545092.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 520,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875033.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUS",
"gene_hgnc_id": 4010,
"hgvs_c": "c.1469_1471dupGGG",
"hgvs_p": "p.Gly490dup",
"transcript": "ENST00000875030.1",
"protein_id": "ENSP00000545089.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 515,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875030.1"
},
{
"aa_ref": "D",
"aa_alt": "GD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
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{
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],
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_genomes_af": 0.00000661708,
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.627,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004960.4",
"gene_symbol": "FUS",
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"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD,AR,Unknown",
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"hgvs_p": "p.Gly501dup"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}