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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: 1-225406781-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225406781&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225406781,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002296.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "NM_002296.4",
"protein_id": "NP_002287.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272163.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002296.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000272163.9",
"protein_id": "ENSP00000272163.4",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002296.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272163.9"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "NM_194442.3",
"protein_id": "NP_919424.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194442.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000338179.6",
"protein_id": "ENSP00000339883.2",
"transcript_support_level": 5,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338179.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000885795.1",
"protein_id": "ENSP00000555854.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885795.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000885800.1",
"protein_id": "ENSP00000555859.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885800.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000885801.1",
"protein_id": "ENSP00000555860.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885801.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000885803.1",
"protein_id": "ENSP00000555862.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885803.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000945207.1",
"protein_id": "ENSP00000615266.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945207.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000945208.1",
"protein_id": "ENSP00000615267.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945208.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000945209.1",
"protein_id": "ENSP00000615268.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 615,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945209.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1363C>G",
"hgvs_p": "p.Leu455Val",
"transcript": "ENST00000885794.1",
"protein_id": "ENSP00000555853.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 614,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885794.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1363C>G",
"hgvs_p": "p.Leu455Val",
"transcript": "ENST00000885797.1",
"protein_id": "ENSP00000555856.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 614,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885797.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1363C>G",
"hgvs_p": "p.Leu455Val",
"transcript": "ENST00000885802.1",
"protein_id": "ENSP00000555861.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 614,
"cds_start": 1363,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885802.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000933594.1",
"protein_id": "ENSP00000603653.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 614,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933594.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000945206.1",
"protein_id": "ENSP00000615265.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 607,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945206.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Leu446Val",
"transcript": "ENST00000945205.1",
"protein_id": "ENSP00000615264.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 605,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945205.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000933595.1",
"protein_id": "ENSP00000603654.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 593,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933595.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1366C>G",
"hgvs_p": "p.Leu456Val",
"transcript": "ENST00000945203.1",
"protein_id": "ENSP00000615262.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 588,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945203.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1261C>G",
"hgvs_p": "p.Leu421Val",
"transcript": "ENST00000933596.1",
"protein_id": "ENSP00000603655.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 580,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933596.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1240C>G",
"hgvs_p": "p.Leu414Val",
"transcript": "ENST00000885796.1",
"protein_id": "ENSP00000555855.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 573,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885796.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBR",
"gene_hgnc_id": 6518,
"hgvs_c": "c.1240C>G",
"hgvs_p": "p.Leu414Val",
"transcript": "ENST00000933597.1",
"protein_id": "ENSP00000603656.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 573,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933597.1"
},
{
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"dbsnp": "rs377110126",
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.933,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.578,
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"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.623,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,PP5",
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{
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"pathogenic_score": 5,
"criteria": [
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"PP5"
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"verdict": "Uncertain_significance",
"transcript": "NM_002296.4",
"gene_symbol": "LBR",
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "Connective tissue disorder,Greenberg dysplasia,Pelger-Huët anomaly,RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY,Regressive spondylometaphyseal dysplasia,Reynolds syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"phenotype_combined": "RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY|Pelger-Huët anomaly;Reynolds syndrome;Regressive spondylometaphyseal dysplasia;Greenberg dysplasia|Connective tissue disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}