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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: X-154546044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154546044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154546044,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000402.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "NM_001360016.2",
"protein_id": "NP_001346945.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393562.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360016.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000393562.10",
"protein_id": "ENSP00000377192.3",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001360016.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393562.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.189+3592C>T",
"hgvs_p": null,
"transcript": "ENST00000618670.4",
"protein_id": "ENSP00000483825.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618670.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.124+3657C>T",
"hgvs_p": null,
"transcript": "ENST00000612051.1",
"protein_id": "ENSP00000480431.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000612051.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000696421.1",
"protein_id": "ENSP00000512616.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 581,
"cds_start": 112,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696421.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000369620.6",
"protein_id": "ENSP00000358633.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 561,
"cds_start": 112,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369620.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000915896.1",
"protein_id": "ENSP00000585955.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 561,
"cds_start": 112,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915896.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "NM_000402.4",
"protein_id": "NP_000393.4",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 545,
"cds_start": 202,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000402.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000439227.6",
"protein_id": "ENSP00000395599.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 516,
"cds_start": 112,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439227.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000907454.1",
"protein_id": "ENSP00000577513.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 516,
"cds_start": 112,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907454.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000915895.1",
"protein_id": "ENSP00000585954.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 516,
"cds_start": 112,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915895.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "NM_001042351.3",
"protein_id": "NP_001035810.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042351.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000393564.7",
"protein_id": "ENSP00000377194.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393564.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000696429.1",
"protein_id": "ENSP00000512624.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696429.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000696430.1",
"protein_id": "ENSP00000512625.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696430.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000907455.1",
"protein_id": "ENSP00000577514.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907455.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000907457.1",
"protein_id": "ENSP00000577516.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907457.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000915897.1",
"protein_id": "ENSP00000585956.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 515,
"cds_start": 112,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915897.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000968237.1",
"protein_id": "ENSP00000638296.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 513,
"cds_start": 112,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968237.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000696420.1",
"protein_id": "ENSP00000512615.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 491,
"cds_start": 112,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696420.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000915894.1",
"protein_id": "ENSP00000585953.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 462,
"cds_start": 112,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915894.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PD",
"gene_hgnc_id": 4057,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000440967.5",
"protein_id": "ENSP00000400648.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 319,
"cds_start": 112,
"cds_end": null,
"cds_length": 962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440967.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
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],
"gene_symbol": "G6PD",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9896976947784424,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.932,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9954,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.78,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.905,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000402.4",
"gene_symbol": "G6PD",
"hgnc_id": 4057,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001099856.6",
"gene_symbol": "IKBKG",
"hgnc_id": 5961,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.189+3592C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}