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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: 11-119091507-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119091507&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119091507,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000652429.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "NM_000190.4",
"protein_id": "NP_000181.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 361,
"cds_start": 593,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "ENST00000652429.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "ENST00000652429.1",
"protein_id": "ENSP00000498786.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 361,
"cds_start": 593,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "NM_000190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "ENST00000392841.1",
"protein_id": "ENSP00000376584.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "n.*488G>A",
"hgvs_p": null,
"transcript": "ENST00000545621.5",
"protein_id": "ENSP00000444849.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "n.*488G>A",
"hgvs_p": null,
"transcript": "ENST00000545621.5",
"protein_id": "ENSP00000444849.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "NM_001425056.1",
"protein_id": "NP_001411985.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 358,
"cds_start": 593,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Trp192*",
"transcript": "NM_001425057.1",
"protein_id": "NP_001411986.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 355,
"cds_start": 575,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Trp192*",
"transcript": "ENST00000442944.7",
"protein_id": "ENSP00000392041.3",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 355,
"cds_start": 575,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "NM_001425058.1",
"protein_id": "NP_001411987.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 348,
"cds_start": 593,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "NM_001024382.2",
"protein_id": "NP_001019553.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "NM_001425052.1",
"protein_id": "NP_001411981.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "NM_001425053.1",
"protein_id": "NP_001411982.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "NM_001425054.1",
"protein_id": "NP_001411983.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "ENST00000537841.5",
"protein_id": "ENSP00000444730.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 833,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Trp181*",
"transcript": "ENST00000648374.1",
"protein_id": "ENSP00000497255.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 344,
"cds_start": 542,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Trp180*",
"transcript": "NM_001425059.1",
"protein_id": "NP_001411988.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 343,
"cds_start": 539,
"cds_end": null,
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"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Trp175*",
"transcript": "ENST00000650101.1",
"protein_id": "ENSP00000496970.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 338,
"cds_start": 524,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Trp180*",
"transcript": "ENST00000543090.5",
"protein_id": "ENSP00000445429.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 330,
"cds_start": 539,
"cds_end": null,
"cds_length": 993,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "NM_001258208.2",
"protein_id": "NP_001245137.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 321,
"cds_start": 593,
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"cds_length": 966,
"cdna_start": 746,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "ENST00000544387.5",
"protein_id": "ENSP00000438424.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 321,
"cds_start": 593,
"cds_end": null,
"cds_length": 966,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*",
"transcript": "NM_001425061.1",
"protein_id": "NP_001411990.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 308,
"cds_start": 593,
"cds_end": null,
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"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Trp143*",
"transcript": "NM_001425062.1",
"protein_id": "NP_001411991.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 306,
"cds_start": 428,
"cds_end": null,
"cds_length": 921,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Trp143*",
"transcript": "NM_001425063.1",
"protein_id": "NP_001411992.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 306,
"cds_start": 428,
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}
],
"gene_symbol": "HMBS",
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"dbsnp": "rs118204100",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.889,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
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"pathogenic_score": 11,
"criteria": [
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"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000652429.1",
"gene_symbol": "HMBS",
"hgnc_id": 4982,
"effects": [
"stop_gained"
],
"inheritance_mode": "SD,AD",
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Trp198*"
}
],
"clinvar_disease": "Acute intermittent porphyria",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute intermittent porphyria",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}