← Back to variant description
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: 20-35980501-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35980501&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35980501,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365709.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "NM_001365709.1",
"protein_id": "NP_001352638.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 576,
"cds_start": 286,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373973.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365709.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "ENST00000373973.7",
"protein_id": "ENSP00000363084.3",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 576,
"cds_start": 286,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365709.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373973.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "ENST00000538900.1",
"protein_id": "ENSP00000442729.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 423,
"cds_start": 286,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538900.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "n.286C>A",
"hgvs_p": null,
"transcript": "ENST00000463258.6",
"protein_id": "ENSP00000476014.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000463258.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "NM_080834.4",
"protein_id": "NP_543024.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 572,
"cds_start": 286,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080834.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "ENST00000349339.5",
"protein_id": "ENSP00000340954.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 572,
"cds_start": 286,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349339.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "NM_001207076.3",
"protein_id": "NP_001194005.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 423,
"cds_start": 286,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207076.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "ENST00000622112.4",
"protein_id": "ENSP00000479333.1",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 180,
"cds_start": 463,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622112.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439921.1",
"protein_id": "XP_047295877.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 635,
"cds_start": 463,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439921.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439922.1",
"protein_id": "XP_047295878.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 631,
"cds_start": 463,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439922.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.409C>A",
"hgvs_p": "p.Pro137Thr",
"transcript": "XM_011528590.3",
"protein_id": "XP_011526892.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 617,
"cds_start": 409,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528590.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.262C>A",
"hgvs_p": "p.Pro88Thr",
"transcript": "XM_047439923.1",
"protein_id": "XP_047295879.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 568,
"cds_start": 262,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439923.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Pro73Thr",
"transcript": "XM_017027683.3",
"protein_id": "XP_016883172.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 553,
"cds_start": 217,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027683.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439924.1",
"protein_id": "XP_047295880.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 536,
"cds_start": 463,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439924.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Pro49Thr",
"transcript": "XM_011528592.1",
"protein_id": "XP_011526894.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 529,
"cds_start": 145,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528592.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439925.1",
"protein_id": "XP_047295881.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 490,
"cds_start": 463,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439925.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439926.1",
"protein_id": "XP_047295882.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 485,
"cds_start": 463,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439926.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439927.1",
"protein_id": "XP_047295883.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 482,
"cds_start": 463,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439927.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439928.1",
"protein_id": "XP_047295884.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 324,
"cds_start": 463,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439928.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Pro155Thr",
"transcript": "XM_047439929.1",
"protein_id": "XP_047295885.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 320,
"cds_start": 463,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439929.1"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.421-4126C>A",
"hgvs_p": null,
"transcript": "XM_011528593.3",
"protein_id": "XP_011526895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": null,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528593.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "n.459C>A",
"hgvs_p": null,
"transcript": "NR_130714.2",
"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_130714.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"hgvs_c": "c.-125C>A",
"hgvs_p": null,
"transcript": "XM_011528598.1",
"protein_id": "XP_011526900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": null,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528598.1"
}
],
"gene_symbol": "CNBD2",
"gene_hgnc_id": 16145,
"dbsnp": "rs184047696",
"frequency_reference_population": 0.00010656225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 172,
"gnomad_exomes_af": 0.000111502,
"gnomad_genomes_af": 0.000059125,
"gnomad_exomes_ac": 163,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7560305595397949,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.432,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.037,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365709.1",
"gene_symbol": "CNBD2",
"hgnc_id": 16145,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr"
}
],
"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
}