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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: 15-90998976-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90998976&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90998976,
"ref": "C",
"alt": "A",
"effect": "stop_lost",
"transcript": "NM_018668.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1853G>T",
"hgvs_p": "p.Ter618Leuext*?",
"transcript": "NM_018668.5",
"protein_id": "NP_061138.3",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 617,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333371.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018668.5"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1853G>T",
"hgvs_p": "p.Ter618Leuext*?",
"transcript": "ENST00000333371.8",
"protein_id": "ENSP00000327650.4",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 617,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018668.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333371.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284946",
"gene_hgnc_id": null,
"hgvs_c": "n.1774+701G>T",
"hgvs_p": null,
"transcript": "ENST00000643536.1",
"protein_id": "ENSP00000494429.1",
"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": "ENST00000643536.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1868G>T",
"hgvs_p": "p.Ter623Leuext*?",
"transcript": "ENST00000853125.1",
"protein_id": "ENSP00000523184.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 622,
"cds_start": 1868,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853125.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1847G>T",
"hgvs_p": "p.Ter616Leuext*?",
"transcript": "ENST00000940927.1",
"protein_id": "ENSP00000610986.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 615,
"cds_start": 1847,
"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": "ENST00000940927.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1775G>T",
"hgvs_p": "p.Ter592Leuext*?",
"transcript": "ENST00000853127.1",
"protein_id": "ENSP00000523186.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 591,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853127.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1772G>T",
"hgvs_p": "p.Ter591Leuext*?",
"transcript": "NM_001289148.1",
"protein_id": "NP_001276077.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 590,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289148.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1772G>T",
"hgvs_p": "p.Ter591Leuext*?",
"transcript": "ENST00000535906.1",
"protein_id": "ENSP00000444053.1",
"transcript_support_level": 2,
"aa_start": 591,
"aa_end": null,
"aa_length": 590,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535906.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1739G>T",
"hgvs_p": "p.Ter580Leuext*?",
"transcript": "ENST00000853126.1",
"protein_id": "ENSP00000523185.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 579,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853126.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1739G>T",
"hgvs_p": "p.Ter580Leuext*?",
"transcript": "ENST00000940926.1",
"protein_id": "ENSP00000610985.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 579,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940926.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Ter565Leuext*?",
"transcript": "ENST00000940925.1",
"protein_id": "ENSP00000610984.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 564,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940925.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1592G>T",
"hgvs_p": "p.Ter531Leuext*?",
"transcript": "ENST00000940924.1",
"protein_id": "ENSP00000610983.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 530,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940924.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1580G>T",
"hgvs_p": "p.Ter527Leuext*?",
"transcript": "NM_001289149.1",
"protein_id": "NP_001276078.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 526,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289149.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1580G>T",
"hgvs_p": "p.Ter527Leuext*?",
"transcript": "XM_005254887.2",
"protein_id": "XP_005254944.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 526,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254887.2"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1580G>T",
"hgvs_p": "p.Ter527Leuext*?",
"transcript": "XM_047432383.1",
"protein_id": "XP_047288339.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 526,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432383.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "c.1529G>T",
"hgvs_p": "p.Ter510Leuext*?",
"transcript": "XM_011521449.3",
"protein_id": "XP_011519751.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 509,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521449.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "n.226G>T",
"hgvs_p": null,
"transcript": "ENST00000557470.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000557470.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "n.*1548G>T",
"hgvs_p": null,
"transcript": "ENST00000574755.5",
"protein_id": "ENSP00000460413.1",
"transcript_support_level": 2,
"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": "ENST00000574755.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33B",
"gene_hgnc_id": 12712,
"hgvs_c": "n.*1548G>T",
"hgvs_p": null,
"transcript": "ENST00000574755.5",
"protein_id": "ENSP00000460413.1",
"transcript_support_level": 2,
"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": "ENST00000574755.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284946",
"gene_hgnc_id": null,
"hgvs_c": "n.1774+701G>T",
"hgvs_p": null,
"transcript": "ENST00000647331.1",
"protein_id": "ENSP00000493953.1",
"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": "ENST00000647331.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS33B-DT",
"gene_hgnc_id": 51413,
"hgvs_c": "n.279+4041C>A",
"hgvs_p": null,
"transcript": "ENST00000810070.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000810070.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS33B-DT",
"gene_hgnc_id": 51413,
"hgvs_c": "n.224+4041C>A",
"hgvs_p": null,
"transcript": "ENST00000810071.1",
"protein_id": null,
"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": "pseudogene",
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{
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{
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],
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"dbsnp": "rs200701326",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.453,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018668.5",
"gene_symbol": "VPS33B",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ter618Leuext*?"
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{
"score": 2,
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"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643536.1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.1774+701G>T",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000810070.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279+4041C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}