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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: 11-119092958-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119092958&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119092958,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000652429.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.849G>C",
"hgvs_p": "p.Trp283Cys",
"transcript": "NM_000190.4",
"protein_id": "NP_000181.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 361,
"cds_start": 849,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "ENST00000652429.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.849G>C",
"hgvs_p": "p.Trp283Cys",
"transcript": "ENST00000652429.1",
"protein_id": "ENSP00000498786.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 361,
"cds_start": 849,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "NM_000190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "ENST00000392841.1",
"protein_id": "ENSP00000376584.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.840G>C",
"hgvs_p": "p.Trp280Cys",
"transcript": "NM_001425056.1",
"protein_id": "NP_001411985.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 358,
"cds_start": 840,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Trp277Cys",
"transcript": "NM_001425057.1",
"protein_id": "NP_001411986.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 355,
"cds_start": 831,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Trp277Cys",
"transcript": "ENST00000442944.7",
"protein_id": "ENSP00000392041.3",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 355,
"cds_start": 831,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.810G>C",
"hgvs_p": "p.Trp270Cys",
"transcript": "NM_001425058.1",
"protein_id": "NP_001411987.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 348,
"cds_start": 810,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "NM_001024382.2",
"protein_id": "NP_001019553.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "NM_001425052.1",
"protein_id": "NP_001411981.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "NM_001425053.1",
"protein_id": "NP_001411982.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "NM_001425054.1",
"protein_id": "NP_001411983.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "ENST00000537841.5",
"protein_id": "ENSP00000444730.1",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Trp266Cys",
"transcript": "ENST00000648374.1",
"protein_id": "ENSP00000497255.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 798,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.795G>C",
"hgvs_p": "p.Trp265Cys",
"transcript": "NM_001425059.1",
"protein_id": "NP_001411988.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 343,
"cds_start": 795,
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"cds_length": 1032,
"cdna_start": 948,
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"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Trp260Cys",
"transcript": "ENST00000650101.1",
"protein_id": "ENSP00000496970.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 338,
"cds_start": 780,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.756G>C",
"hgvs_p": "p.Trp252Cys",
"transcript": "ENST00000543090.5",
"protein_id": "ENSP00000445429.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 330,
"cds_start": 756,
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"cdna_start": 860,
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"cdna_length": 1347,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.729G>C",
"hgvs_p": "p.Trp243Cys",
"transcript": "NM_001258208.2",
"protein_id": "NP_001245137.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 321,
"cds_start": 729,
"cds_end": null,
"cds_length": 966,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.729G>C",
"hgvs_p": "p.Trp243Cys",
"transcript": "ENST00000544387.5",
"protein_id": "ENSP00000438424.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 321,
"cds_start": 729,
"cds_end": null,
"cds_length": 966,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.690G>C",
"hgvs_p": "p.Trp230Cys",
"transcript": "NM_001425061.1",
"protein_id": "NP_001411990.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 308,
"cds_start": 690,
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"cdna_start": 843,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.684G>C",
"hgvs_p": "p.Trp228Cys",
"transcript": "NM_001425062.1",
"protein_id": "NP_001411991.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 306,
"cds_start": 684,
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"cdna_start": 1143,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.684G>C",
"hgvs_p": "p.Trp228Cys",
"transcript": "NM_001425063.1",
"protein_id": "NP_001411992.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 306,
"cds_start": 684,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.684G>C",
"hgvs_p": "p.Trp228Cys",
"transcript": "ENST00000686218.1",
"protein_id": "ENSP00000509288.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 306,
"cds_start": 684,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Trp226Cys",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}