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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: 10-98417671-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98417671&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98417671,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000195.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "NM_000195.5",
"protein_id": "NP_000186.2",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361490.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000195.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000361490.9",
"protein_id": "ENSP00000355310.4",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000195.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361490.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*1355G>A",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": "ENST00000467246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*1355G>A",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": "ENST00000467246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*1347+8G>A",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"transcript_support_level": null,
"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": "ENST00000699159.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000699134.1",
"protein_id": "ENSP00000514151.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 786,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699134.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Glu680Lys",
"transcript": "ENST00000963962.1",
"protein_id": "ENSP00000634021.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 714,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963962.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000699125.1",
"protein_id": "ENSP00000514146.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 710,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699125.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000884309.1",
"protein_id": "ENSP00000554368.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 710,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884309.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "NM_001322476.2",
"protein_id": "NP_001309405.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322476.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "NM_001322477.2",
"protein_id": "NP_001309406.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322477.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000325103.10",
"protein_id": "ENSP00000326649.6",
"transcript_support_level": 5,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325103.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000699142.1",
"protein_id": "ENSP00000514159.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699142.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000884307.1",
"protein_id": "ENSP00000554366.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884307.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000884313.1",
"protein_id": "ENSP00000554372.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884313.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000884316.1",
"protein_id": "ENSP00000554375.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884316.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000884317.1",
"protein_id": "ENSP00000554376.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884317.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000884318.1",
"protein_id": "ENSP00000554377.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 700,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884318.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"transcript": "ENST00000914266.1",
"protein_id": "ENSP00000584325.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 688,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914266.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"transcript": "ENST00000914268.1",
"protein_id": "ENSP00000584327.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 688,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914268.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"transcript": "ENST00000963959.1",
"protein_id": "ENSP00000634018.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 688,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963959.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000914269.1",
"protein_id": "ENSP00000584328.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 678,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_score_selected": 0.8888205289840698,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.602,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.53,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000195.5",
"gene_symbol": "HPS1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Glu666Lys"
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{
"score": 4,
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000699159.1",
"gene_symbol": "ENSG00000289758",
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"effects": [
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"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Hermansky-Pudlak syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hermansky-Pudlak syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}