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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: 1-155247900-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155247900&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155247900,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006589.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1889G>T",
"hgvs_p": "p.Cys630Phe",
"transcript": "NM_006589.3",
"protein_id": "NP_006580.2",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 668,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361361.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006589.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1889G>T",
"hgvs_p": "p.Cys630Phe",
"transcript": "ENST00000361361.7",
"protein_id": "ENSP00000354958.2",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 668,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006589.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361361.7"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1835G>T",
"hgvs_p": "p.Cys612Phe",
"transcript": "ENST00000368368.7",
"protein_id": "ENSP00000357352.3",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 650,
"cds_start": 1835,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368368.7"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1601G>T",
"hgvs_p": "p.Cys534Phe",
"transcript": "ENST00000350210.6",
"protein_id": "ENSP00000307128.4",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 572,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350210.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "n.1279G>T",
"hgvs_p": null,
"transcript": "ENST00000368366.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000368366.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "n.*277G>T",
"hgvs_p": null,
"transcript": "ENST00000487649.5",
"protein_id": "ENSP00000427520.1",
"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": "ENST00000487649.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "n.*277G>T",
"hgvs_p": null,
"transcript": "ENST00000487649.5",
"protein_id": "ENSP00000427520.1",
"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": "ENST00000487649.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Cys631Phe",
"transcript": "ENST00000851432.1",
"protein_id": "ENSP00000521491.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 669,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851432.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1835G>T",
"hgvs_p": "p.Cys612Phe",
"transcript": "NM_001267608.2",
"protein_id": "NP_001254537.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 650,
"cds_start": 1835,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267608.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1832G>T",
"hgvs_p": "p.Cys611Phe",
"transcript": "ENST00000851437.1",
"protein_id": "ENSP00000521496.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 649,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851437.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Cys606Phe",
"transcript": "ENST00000851433.1",
"protein_id": "ENSP00000521492.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 644,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851433.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1781G>T",
"hgvs_p": "p.Cys594Phe",
"transcript": "ENST00000927592.1",
"protein_id": "ENSP00000597651.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 632,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927592.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Cys593Phe",
"transcript": "ENST00000927595.1",
"protein_id": "ENSP00000597654.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 631,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927595.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1769G>T",
"hgvs_p": "p.Cys590Phe",
"transcript": "ENST00000927596.1",
"protein_id": "ENSP00000597655.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 628,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927596.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1724G>T",
"hgvs_p": "p.Cys575Phe",
"transcript": "ENST00000851436.1",
"protein_id": "ENSP00000521495.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 613,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851436.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1721G>T",
"hgvs_p": "p.Cys574Phe",
"transcript": "ENST00000851439.1",
"protein_id": "ENSP00000521498.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 612,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851439.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1661G>T",
"hgvs_p": "p.Cys554Phe",
"transcript": "ENST00000927594.1",
"protein_id": "ENSP00000597653.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 592,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927594.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1604G>T",
"hgvs_p": "p.Cys535Phe",
"transcript": "ENST00000851434.1",
"protein_id": "ENSP00000521493.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 573,
"cds_start": 1604,
"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": "ENST00000851434.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1601G>T",
"hgvs_p": "p.Cys534Phe",
"transcript": "NM_198264.2",
"protein_id": "NP_937995.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 572,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198264.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1601G>T",
"hgvs_p": "p.Cys534Phe",
"transcript": "ENST00000927590.1",
"protein_id": "ENSP00000597649.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 572,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927590.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Cys462Phe",
"transcript": "ENST00000851441.1",
"protein_id": "ENSP00000521500.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 500,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851441.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP3",
"gene_hgnc_id": 1233,
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Cys448Phe",
"transcript": "ENST00000851438.1",
"protein_id": "ENSP00000521497.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 486,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006589.3",
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"effects": [
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],
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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
}