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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: 13-113208624-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113208624&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113208624,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001320656.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "NM_001127202.4",
"protein_id": "NP_001120674.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 399,
"cds_start": 11,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": "ENST00000337344.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127202.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000337344.9",
"protein_id": "ENSP00000337405.4",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 399,
"cds_start": 11,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": "NM_001127202.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337344.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000375477.5",
"protein_id": "ENSP00000364626.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 399,
"cds_start": 11,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375477.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000375479.6",
"protein_id": "ENSP00000364628.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 399,
"cds_start": 11,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375479.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.-571T>C",
"hgvs_p": null,
"transcript": "ENST00000375457.2",
"protein_id": "ENSP00000364606.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375457.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CUL4A",
"gene_hgnc_id": 2554,
"hgvs_c": "c.-153+17A>G",
"hgvs_p": null,
"transcript": "ENST00000375441.7",
"protein_id": "ENSP00000364590.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": null,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375441.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "NM_001320656.2",
"protein_id": "NP_001307585.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 453,
"cds_start": 11,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320656.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000246505.9",
"protein_id": "ENSP00000246505.5",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 453,
"cds_start": 11,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246505.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000622406.4",
"protein_id": "ENSP00000479494.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 453,
"cds_start": 11,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622406.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000925339.1",
"protein_id": "ENSP00000595398.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 453,
"cds_start": 11,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 67,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925339.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "NM_001320657.2",
"protein_id": "NP_001307586.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 11,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320657.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "NM_001320659.2",
"protein_id": "NP_001307588.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 11,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320659.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "NM_001127203.4",
"protein_id": "NP_001120675.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 399,
"cds_start": 11,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127203.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "NM_018386.5",
"protein_id": "NP_060856.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 399,
"cds_start": 11,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018386.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000952597.1",
"protein_id": "ENSP00000622656.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 388,
"cds_start": 11,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952597.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000952598.1",
"protein_id": "ENSP00000622657.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 369,
"cds_start": 11,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952598.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000952599.1",
"protein_id": "ENSP00000622658.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 362,
"cds_start": 11,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952599.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "ENST00000952596.1",
"protein_id": "ENSP00000622655.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 339,
"cds_start": 11,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 59,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952596.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "XM_047430477.1",
"protein_id": "XP_047286433.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 421,
"cds_start": 11,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430477.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr",
"transcript": "XM_005268325.5",
"protein_id": "XP_005268382.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 239,
"cds_start": 11,
"cds_end": null,
"cds_length": 720,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.-571T>C",
"hgvs_p": null,
"transcript": "NM_001320660.2",
"protein_id": "NP_001307589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320660.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"hgvs_c": "c.-571T>C",
"hgvs_p": null,
"transcript": "NM_001258213.3",
"protein_id": "NP_001245142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258213.3"
},
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"transcript": "NM_001354944.2",
"protein_id": "NP_001341873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354944.2"
}
],
"gene_symbol": "PCID2",
"gene_hgnc_id": 25653,
"dbsnp": "rs142022899",
"frequency_reference_population": 0.0000105777435,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000824365,
"gnomad_genomes_af": 0.0000330072,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23228126764297485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.7908,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.974,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320656.2",
"gene_symbol": "PCID2",
"hgnc_id": 25653,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Ile4Thr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001278513.3",
"gene_symbol": "CUL4A",
"hgnc_id": 2554,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-153+17A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}