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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: 5-180849584-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180849584&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180849584,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001172638.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "NM_001172638.2",
"protein_id": "NP_001166109.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 900,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000502412.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172638.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "ENST00000502412.2",
"protein_id": "ENSP00000423820.1",
"transcript_support_level": 2,
"aa_start": 637,
"aa_end": null,
"aa_length": 900,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001172638.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "n.254-1502G>A",
"hgvs_p": null,
"transcript": "ENST00000506377.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506377.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "NM_001377943.1",
"protein_id": "NP_001364872.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 900,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377943.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "NM_001377939.1",
"protein_id": "NP_001364868.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377939.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "NM_001377940.1",
"protein_id": "NP_001364869.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377940.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "NM_001377941.1",
"protein_id": "NP_001364870.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377941.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "NM_001377942.1",
"protein_id": "NP_001364871.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377942.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "NM_152283.5",
"protein_id": "NP_689496.4",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152283.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "ENST00000512132.5",
"protein_id": "ENSP00000426193.1",
"transcript_support_level": 2,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512132.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "NM_001377944.1",
"protein_id": "NP_001364873.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 786,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377944.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "NM_001377945.1",
"protein_id": "NP_001364874.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 753,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377945.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1962G>A",
"hgvs_p": "p.Arg654Arg",
"transcript": "XM_047417499.1",
"protein_id": "XP_047273455.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 917,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417499.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "XM_047417500.1",
"protein_id": "XP_047273456.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 867,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417500.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1962G>A",
"hgvs_p": "p.Arg654Arg",
"transcript": "XM_017009716.3",
"protein_id": "XP_016865205.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 821,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009716.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1962G>A",
"hgvs_p": "p.Arg654Arg",
"transcript": "XM_017009718.3",
"protein_id": "XP_016865207.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 806,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009718.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "XM_047417501.1",
"protein_id": "XP_047273457.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 804,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417501.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1962G>A",
"hgvs_p": "p.Arg654Arg",
"transcript": "XM_017009719.3",
"protein_id": "XP_016865208.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 803,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009719.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "XM_047417502.1",
"protein_id": "XP_047273458.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 789,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417502.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg",
"transcript": "XM_047417503.1",
"protein_id": "XP_047273459.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 786,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "c.913+998G>A",
"hgvs_p": null,
"transcript": "XM_047417504.1",
"protein_id": "XP_047273460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEIH",
"gene_hgnc_id": 45049,
"hgvs_c": "n.319+11956G>A",
"hgvs_p": null,
"transcript": "ENST00000751341.1",
"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": "ENST00000751341.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"hgvs_c": "n.-68G>A",
"hgvs_p": null,
"transcript": "ENST00000507843.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000507843.1"
}
],
"gene_symbol": "ZFP62",
"gene_hgnc_id": 23241,
"dbsnp": "rs138541087",
"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": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.731,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001172638.2",
"gene_symbol": "ZFP62",
"hgnc_id": 23241,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Arg637Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000751341.1",
"gene_symbol": "HEIH",
"hgnc_id": 45049,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.319+11956G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}