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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: 10-27017672-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27017672&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27017672,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000376087.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4336A>G",
"hgvs_p": "p.Lys1446Glu",
"transcript": "NM_014915.3",
"protein_id": "NP_055730.2",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4336,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 4504,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000376087.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4336A>G",
"hgvs_p": "p.Lys1446Glu",
"transcript": "ENST00000376087.5",
"protein_id": "ENSP00000365255.4",
"transcript_support_level": 5,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4336,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 4504,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_014915.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4333A>G",
"hgvs_p": "p.Lys1445Glu",
"transcript": "ENST00000436985.7",
"protein_id": "ENSP00000405112.3",
"transcript_support_level": 1,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4333,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 4492,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4333A>G",
"hgvs_p": "p.Lys1445Glu",
"transcript": "NM_001256053.2",
"protein_id": "NP_001242982.1",
"transcript_support_level": null,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4333,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 4501,
"cdna_end": null,
"cdna_length": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Lys55Glu",
"transcript": "ENST00000676280.1",
"protein_id": "ENSP00000502438.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 170,
"cds_start": 163,
"cds_end": null,
"cds_length": 513,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_017015928.2",
"protein_id": "XP_016871417.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 10915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_047424821.1",
"protein_id": "XP_047280777.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 7997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_047424822.1",
"protein_id": "XP_047280778.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 9178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5410A>G",
"hgvs_p": "p.Lys1804Glu",
"transcript": "XM_017015929.2",
"protein_id": "XP_016871418.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2108,
"cds_start": 5410,
"cds_end": null,
"cds_length": 6327,
"cdna_start": 5578,
"cdna_end": null,
"cdna_length": 15604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_006717423.3",
"protein_id": "XP_006717486.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2072,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6219,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 7861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5419A>G",
"hgvs_p": "p.Lys1807Glu",
"transcript": "XM_047424824.1",
"protein_id": "XP_047280780.1",
"transcript_support_level": null,
"aa_start": 1807,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5419,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 5587,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_011519416.3",
"protein_id": "XP_011517718.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2062,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6189,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_047424825.1",
"protein_id": "XP_047280781.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2062,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6189,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_006717425.5",
"protein_id": "XP_006717488.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 9532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5422A>G",
"hgvs_p": "p.Lys1808Glu",
"transcript": "XM_017015932.2",
"protein_id": "XP_016871421.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4234A>G",
"hgvs_p": "p.Lys1412Glu",
"transcript": "XM_047424827.1",
"protein_id": "XP_047280783.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4234,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 6673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4336A>G",
"hgvs_p": "p.Lys1446Glu",
"transcript": "XM_047424828.1",
"protein_id": "XP_047280784.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4336,
"cds_end": null,
"cds_length": 5010,
"cdna_start": 4504,
"cdna_end": null,
"cdna_length": 8446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4333A>G",
"hgvs_p": "p.Lys1445Glu",
"transcript": "XM_047424830.1",
"protein_id": "XP_047280786.1",
"transcript_support_level": null,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4333,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4501,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4234A>G",
"hgvs_p": "p.Lys1412Glu",
"transcript": "XM_047424832.1",
"protein_id": "XP_047280788.1",
"transcript_support_level": null,
"aa_start": 1412,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4234,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.*659A>G",
"hgvs_p": null,
"transcript": "ENST00000675116.1",
"protein_id": "ENSP00000501975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.751A>G",
"hgvs_p": null,
"transcript": "ENST00000675936.1",
"protein_id": "ENSP00000502093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.*659A>G",
"hgvs_p": null,
"transcript": "ENST00000675116.1",
"protein_id": "ENSP00000501975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.5302-2961A>G",
"hgvs_p": null,
"transcript": "XM_047424826.1",
"protein_id": "XP_047280782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1975,
"cds_start": -4,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"dbsnp": "rs1442611750",
"frequency_reference_population": 6.843587e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84359e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13490742444992065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.1441,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.853,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000376087.5",
"gene_symbol": "ANKRD26",
"hgnc_id": 29186,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4336A>G",
"hgvs_p": "p.Lys1446Glu"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}