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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: 9-128424439-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128424439&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128424439,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016174.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "NM_016174.5",
"protein_id": "NP_057258.3",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 595,
"cds_start": 591,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": "ENST00000372838.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016174.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000372838.9",
"protein_id": "ENSP00000361929.4",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 595,
"cds_start": 591,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": "NM_016174.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372838.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "n.267C>T",
"hgvs_p": null,
"transcript": "ENST00000463535.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463535.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Phe221Phe",
"transcript": "ENST00000951772.1",
"protein_id": "ENSP00000621831.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 619,
"cds_start": 663,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951772.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000951773.1",
"protein_id": "ENSP00000621832.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 606,
"cds_start": 591,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951773.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Phe198Phe",
"transcript": "ENST00000951767.1",
"protein_id": "ENSP00000621826.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 596,
"cds_start": 594,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951767.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000951770.1",
"protein_id": "ENSP00000621829.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 595,
"cds_start": 591,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951770.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Phe185Phe",
"transcript": "ENST00000951771.1",
"protein_id": "ENSP00000621830.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 583,
"cds_start": 555,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951771.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000895870.1",
"protein_id": "ENSP00000565929.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 582,
"cds_start": 591,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895870.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.531C>T",
"hgvs_p": "p.Phe177Phe",
"transcript": "ENST00000895872.1",
"protein_id": "ENSP00000565931.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 575,
"cds_start": 531,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895872.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.456C>T",
"hgvs_p": "p.Phe152Phe",
"transcript": "ENST00000951768.1",
"protein_id": "ENSP00000621827.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 550,
"cds_start": 456,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951768.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000895871.1",
"protein_id": "ENSP00000565930.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 527,
"cds_start": 591,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895871.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "NM_001286760.1",
"protein_id": "NP_001273689.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 517,
"cds_start": 357,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286760.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000372842.5",
"protein_id": "ENSP00000361933.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 517,
"cds_start": 357,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 5201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372842.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000951769.1",
"protein_id": "ENSP00000621828.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 508,
"cds_start": 591,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951769.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe",
"transcript": "ENST00000895873.1",
"protein_id": "ENSP00000565932.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 440,
"cds_start": 591,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895873.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "ENST00000420512.5",
"protein_id": "ENSP00000416676.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 217,
"cds_start": 357,
"cds_end": null,
"cds_length": 654,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420512.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "XM_011518763.4",
"protein_id": "XP_011517065.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 517,
"cds_start": 357,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518763.4"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Phe119Phe",
"transcript": "XM_047423450.1",
"protein_id": "XP_047279406.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 517,
"cds_start": 357,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "n.97C>T",
"hgvs_p": null,
"transcript": "ENST00000483893.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483893.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "c.*166C>T",
"hgvs_p": null,
"transcript": "ENST00000447915.5",
"protein_id": "ENSP00000402928.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447915.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "n.-163C>T",
"hgvs_p": null,
"transcript": "ENST00000487001.6",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487001.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"hgvs_c": "n.*170C>T",
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"transcript": "ENST00000483737.1",
"protein_id": null,
"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": 481,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483737.1"
}
],
"gene_symbol": "CERCAM",
"gene_hgnc_id": 23723,
"dbsnp": "rs368947852",
"frequency_reference_population": 0.000001858743,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013682,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.076,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_016174.5",
"gene_symbol": "CERCAM",
"hgnc_id": 23723,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Phe197Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}