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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: 3-49026331-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49026331&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49026331,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001410759.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr",
"transcript": "NM_000884.3",
"protein_id": "NP_000875.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 514,
"cds_start": 999,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326739.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000884.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr",
"transcript": "ENST00000326739.9",
"protein_id": "ENSP00000321584.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 514,
"cds_start": 999,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000884.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326739.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290315",
"gene_hgnc_id": null,
"hgvs_c": "c.3039G>T",
"hgvs_p": "p.Thr1013Thr",
"transcript": "ENST00000703936.1",
"protein_id": "ENSP00000515567.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3039,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703936.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1167G>T",
"hgvs_p": "p.Thr389Thr",
"transcript": "ENST00000937815.1",
"protein_id": "ENSP00000607874.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 570,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937815.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr",
"transcript": "NM_001410759.1",
"protein_id": "NP_001397688.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 538,
"cds_start": 999,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410759.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr",
"transcript": "ENST00000429182.6",
"protein_id": "ENSP00000393525.2",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 538,
"cds_start": 999,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429182.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Thr332Thr",
"transcript": "ENST00000968719.1",
"protein_id": "ENSP00000638778.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 537,
"cds_start": 996,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968719.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.987G>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000968723.1",
"protein_id": "ENSP00000638782.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 534,
"cds_start": 987,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968723.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Thr325Thr",
"transcript": "ENST00000937818.1",
"protein_id": "ENSP00000607877.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 530,
"cds_start": 975,
"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": "ENST00000937818.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1035G>T",
"hgvs_p": "p.Thr345Thr",
"transcript": "ENST00000937813.1",
"protein_id": "ENSP00000607872.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 526,
"cds_start": 1035,
"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": "ENST00000937813.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1023G>T",
"hgvs_p": "p.Thr341Thr",
"transcript": "ENST00000677010.1",
"protein_id": "ENSP00000503089.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 522,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677010.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr",
"transcript": "ENST00000881196.1",
"protein_id": "ENSP00000551255.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 520,
"cds_start": 999,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881196.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000881195.1",
"protein_id": "ENSP00000551254.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 519,
"cds_start": 942,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881195.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.924G>T",
"hgvs_p": "p.Thr308Thr",
"transcript": "NM_001410760.1",
"protein_id": "NP_001397689.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 513,
"cds_start": 924,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410760.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.924G>T",
"hgvs_p": "p.Thr308Thr",
"transcript": "ENST00000678724.1",
"protein_id": "ENSP00000503874.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 513,
"cds_start": 924,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678724.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Thr332Thr",
"transcript": "ENST00000937811.1",
"protein_id": "ENSP00000607870.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 513,
"cds_start": 996,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937811.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr",
"transcript": "ENST00000937820.1",
"protein_id": "ENSP00000607879.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 513,
"cds_start": 999,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937820.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.993G>T",
"hgvs_p": "p.Thr331Thr",
"transcript": "ENST00000937810.1",
"protein_id": "ENSP00000607869.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 512,
"cds_start": 993,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937810.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.993G>T",
"hgvs_p": "p.Thr331Thr",
"transcript": "ENST00000937817.1",
"protein_id": "ENSP00000607876.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 512,
"cds_start": 993,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937817.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.987G>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000881190.1",
"protein_id": "ENSP00000551249.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 510,
"cds_start": 987,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881190.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.987G>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000881194.1",
"protein_id": "ENSP00000551253.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 510,
"cds_start": 987,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881194.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.975G>T",
"hgvs_p": "p.Thr325Thr",
"transcript": "ENST00000881192.1",
"protein_id": "ENSP00000551251.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 506,
"cds_start": 975,
"cds_end": null,
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{
"aa_ref": null,
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"3_prime_UTR_variant"
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{
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"3_prime_UTR_variant"
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"gene_symbol": "ENSG00000290315",
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"transcript": "ENST00000703937.1",
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],
"gene_symbol": "IMPDH2",
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"dbsnp": "rs72624913",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017000000923871994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.397,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001410759.1",
"gene_symbol": "IMPDH2",
"hgnc_id": 6053,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.999G>T",
"hgvs_p": "p.Thr333Thr"
},
{
"score": -1,
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"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000703936.1",
"gene_symbol": "ENSG00000290315",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3039G>T",
"hgvs_p": "p.Thr1013Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}