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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: 4-1212307-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1212307&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1212307,
"ref": "T",
"alt": "TG",
"effect": "frameshift_variant",
"transcript": "NM_001377186.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1222dupC",
"hgvs_p": "p.His408fs",
"transcript": "NM_001012614.2",
"protein_id": "NP_001012632.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 429,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382952.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012614.2"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1222dupC",
"hgvs_p": "p.His408fs",
"transcript": "ENST00000382952.8",
"protein_id": "ENSP00000372411.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 429,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012614.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382952.8"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1255dupC",
"hgvs_p": "p.His419fs",
"transcript": "ENST00000290921.10",
"protein_id": "ENSP00000290921.6",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 440,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290921.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1-AS",
"gene_hgnc_id": 48337,
"hgvs_c": "n.784dupG",
"hgvs_p": null,
"transcript": "ENST00000625256.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000625256.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1297dupC",
"hgvs_p": "p.His433fs",
"transcript": "ENST00000941588.1",
"protein_id": "ENSP00000611647.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 454,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941588.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1258dupC",
"hgvs_p": "p.His420fs",
"transcript": "NM_001377186.1",
"protein_id": "NP_001364115.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 441,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377186.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1255dupC",
"hgvs_p": "p.His419fs",
"transcript": "NM_001328.3",
"protein_id": "NP_001319.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 440,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328.3"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "NM_001377187.1",
"protein_id": "NP_001364116.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377187.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "NM_001377188.1",
"protein_id": "NP_001364117.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377188.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "NM_001377189.1",
"protein_id": "NP_001364118.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377189.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "NM_001377190.1",
"protein_id": "NP_001364119.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377190.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000503594.6",
"protein_id": "ENSP00000422148.2",
"transcript_support_level": 2,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503594.6"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000703164.1",
"protein_id": "ENSP00000515212.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703164.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000703165.1",
"protein_id": "ENSP00000515213.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703165.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909001.1",
"protein_id": "ENSP00000579060.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909001.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909002.1",
"protein_id": "ENSP00000579061.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909002.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909003.1",
"protein_id": "ENSP00000579062.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909003.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909004.1",
"protein_id": "ENSP00000579063.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909004.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909005.1",
"protein_id": "ENSP00000579064.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909005.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909007.1",
"protein_id": "ENSP00000579066.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909007.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909010.1",
"protein_id": "ENSP00000579069.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909010.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"hgvs_c": "c.1225dupC",
"hgvs_p": "p.His409fs",
"transcript": "ENST00000909013.1",
"protein_id": "ENSP00000579072.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 430,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909013.1"
},
{
"aa_ref": "H",
"aa_alt": "P?",
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTBP1-AS",
"gene_hgnc_id": 48337,
"hgvs_c": "n.784dupG",
"hgvs_p": null,
"transcript": "NR_104331.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104331.1"
}
],
"gene_symbol": "CTBP1",
"gene_hgnc_id": 2494,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.217,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001377186.1",
"gene_symbol": "CTBP1",
"hgnc_id": 2494,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1258dupC",
"hgvs_p": "p.His420fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625256.1",
"gene_symbol": "CTBP1-AS",
"hgnc_id": 48337,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.784dupG",
"hgvs_p": null
}
],
"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
}