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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: 11-119091413-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119091413&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119091413,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000652429.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "NM_000190.4",
"protein_id": "NP_000181.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 361,
"cds_start": 499,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "ENST00000652429.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "ENST00000652429.1",
"protein_id": "ENSP00000498786.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 361,
"cds_start": 499,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "NM_000190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000392841.1",
"protein_id": "ENSP00000376584.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 558,
"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": [
"splice_region_variant",
"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.*394C>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.*394C>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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "NM_001425056.1",
"protein_id": "NP_001411985.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 358,
"cds_start": 499,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.481C>A",
"hgvs_p": "p.Arg161Arg",
"transcript": "NM_001425057.1",
"protein_id": "NP_001411986.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 355,
"cds_start": 481,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.481C>A",
"hgvs_p": "p.Arg161Arg",
"transcript": "ENST00000442944.7",
"protein_id": "ENSP00000392041.3",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 355,
"cds_start": 481,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "NM_001425058.1",
"protein_id": "NP_001411987.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 348,
"cds_start": 499,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "NM_001024382.2",
"protein_id": "NP_001019553.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "NM_001425052.1",
"protein_id": "NP_001411981.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "NM_001425053.1",
"protein_id": "NP_001411982.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "NM_001425054.1",
"protein_id": "NP_001411983.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000537841.5",
"protein_id": "ENSP00000444730.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000648374.1",
"protein_id": "ENSP00000497255.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 344,
"cds_start": 448,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "NM_001425059.1",
"protein_id": "NP_001411988.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 343,
"cds_start": 445,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.430C>A",
"hgvs_p": "p.Arg144Arg",
"transcript": "ENST00000650101.1",
"protein_id": "ENSP00000496970.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 430,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000543090.5",
"protein_id": "ENSP00000445429.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 330,
"cds_start": 445,
"cds_end": null,
"cds_length": 993,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "NM_001258208.2",
"protein_id": "NP_001245137.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 321,
"cds_start": 499,
"cds_end": null,
"cds_length": 966,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "ENST00000544387.5",
"protein_id": "ENSP00000438424.1",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 321,
"cds_start": 499,
"cds_end": null,
"cds_length": 966,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.499C>A",
"hgvs_p": "p.Arg167Arg",
"transcript": "NM_001425061.1",
"protein_id": "NP_001411990.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 308,
"cds_start": 499,
"cds_end": null,
"cds_length": 927,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"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.334C>A",
"hgvs_p": "p.Arg112Arg",
"transcript": "NM_001425062.1",
"protein_id": "NP_001411991.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 306,
"cds_start": 334,
"cds_end": null,
"cds_length": 921,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
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}
],
"message": null
}