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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: 1-150093597-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150093597&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150093597,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007259.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "NM_007259.5",
"protein_id": "NP_009190.2",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 570,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644510.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007259.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000644510.2",
"protein_id": "ENSP00000495563.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 570,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007259.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644510.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000698584.1",
"protein_id": "ENSP00000513813.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 651,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698584.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000644526.2",
"protein_id": "ENSP00000494363.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 643,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644526.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000698580.1",
"protein_id": "ENSP00000513809.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 595,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698580.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000900003.1",
"protein_id": "ENSP00000570062.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 595,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900003.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000698582.1",
"protein_id": "ENSP00000513811.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 582,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698582.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493Lys",
"transcript": "ENST00000698587.1",
"protein_id": "ENSP00000513816.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 582,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698587.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493Lys",
"transcript": "ENST00000698598.1",
"protein_id": "ENSP00000513825.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 582,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698598.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Lys",
"transcript": "ENST00000698590.1",
"protein_id": "ENSP00000513818.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 569,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698590.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000698581.1",
"protein_id": "ENSP00000513810.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 548,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698581.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458Lys",
"transcript": "ENST00000698532.1",
"protein_id": "ENSP00000513778.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 547,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698532.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Arg457Lys",
"transcript": "ENST00000419023.4",
"protein_id": "ENSP00000400143.3",
"transcript_support_level": 3,
"aa_start": 457,
"aa_end": null,
"aa_length": 546,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419023.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Lys",
"transcript": "ENST00000698578.1",
"protein_id": "ENSP00000513807.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 542,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698578.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Lys",
"transcript": "NM_001279353.2",
"protein_id": "NP_001266282.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 538,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279353.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Lys",
"transcript": "ENST00000369128.9",
"protein_id": "ENSP00000358124.5",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 538,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369128.9"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Lys",
"transcript": "ENST00000698597.1",
"protein_id": "ENSP00000513824.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 538,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698597.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Arg445Lys",
"transcript": "NM_001279354.2",
"protein_id": "NP_001266283.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 534,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279354.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Arg445Lys",
"transcript": "ENST00000643970.2",
"protein_id": "ENSP00000495148.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 534,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643970.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Arg445Lys",
"transcript": "ENST00000698528.1",
"protein_id": "ENSP00000513777.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 534,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698528.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Arg444Lys",
"transcript": "ENST00000698588.1",
"protein_id": "ENSP00000513817.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 533,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698588.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Lys",
"transcript": "ENST00000698533.1",
"protein_id": "ENSP00000513779.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 525,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
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],
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"computational_score_selected": 0.09154099225997925,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "NM_007259.5",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}