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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: 22-37833181-GAC-TAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37833181&ref=GAC&alt=TAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKRD54",
"hgnc_id": 25185,
"hgvs_c": "c.571_573delGTCinsATA",
"hgvs_p": "p.Val191Ile",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_138797.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 300,
"aa_ref": "V",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 669,
"cds_end": null,
"cds_length": 903,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138797.4",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.571_573delGTCinsATA",
"hgvs_p": "p.Val191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215941.9",
"protein_coding": true,
"protein_id": "NP_620152.1",
"strand": false,
"transcript": "NM_138797.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 300,
"aa_ref": "V",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 669,
"cds_end": null,
"cds_length": 903,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000215941.9",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.571_573delGTCinsATA",
"hgvs_p": "p.Val191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138797.4",
"protein_coding": true,
"protein_id": "ENSP00000215941.4",
"strand": false,
"transcript": "ENST00000215941.9",
"transcript_support_level": 1
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 107,
"aa_ref": "LS",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 825,
"cdna_start": 537,
"cds_end": null,
"cds_length": 324,
"cds_start": 117,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000609454.5",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.117_119delGTCinsATA",
"hgvs_p": "p.Ser40*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477088.1",
"strand": false,
"transcript": "ENST00000609454.5",
"transcript_support_level": 3
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "LS",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1035,
"cds_start": 627,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529877.3",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.627_629delGTCinsATA",
"hgvs_p": "p.Ser210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528179.1",
"strand": false,
"transcript": "XM_011529877.3",
"transcript_support_level": null
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 279,
"aa_ref": "LS",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 840,
"cds_start": 432,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441138.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.432_434delGTCinsATA",
"hgvs_p": "p.Ser145*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297094.1",
"strand": false,
"transcript": "XM_047441138.1",
"transcript_support_level": null
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 220,
"aa_ref": "LS",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 838,
"cds_end": null,
"cds_length": 663,
"cds_start": 627,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441139.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.627_629delGTCinsATA",
"hgvs_p": "p.Ser210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297095.1",
"strand": false,
"transcript": "XM_047441139.1",
"transcript_support_level": null
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 207,
"aa_ref": "LS",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 477,
"cds_end": null,
"cds_length": 624,
"cds_start": 216,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006724136.2",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.216_218delGTCinsATA",
"hgvs_p": "p.Ser73*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724199.1",
"strand": false,
"transcript": "XM_006724136.2",
"transcript_support_level": null
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "LS",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 472,
"cds_end": null,
"cds_length": 585,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441141.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.177_179delGTCinsATA",
"hgvs_p": "p.Ser60*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297097.1",
"strand": false,
"transcript": "XM_047441141.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 296,
"aa_ref": "V",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 669,
"cds_end": null,
"cds_length": 891,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873384.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.571_573delGTCinsATA",
"hgvs_p": "p.Val191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543443.1",
"strand": false,
"transcript": "ENST00000873384.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 284,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 608,
"cds_end": null,
"cds_length": 855,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000411961.6",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.523_525delGTCinsATA",
"hgvs_p": "p.Val175Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405782.2",
"strand": false,
"transcript": "ENST00000411961.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 280,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 583,
"cds_end": null,
"cds_length": 843,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957324.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.523_525delGTCinsATA",
"hgvs_p": "p.Val175Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627383.1",
"strand": false,
"transcript": "ENST00000957324.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 276,
"aa_ref": "V",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 600,
"cds_end": null,
"cds_length": 831,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873383.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.499_501delGTCinsATA",
"hgvs_p": "p.Val167Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543442.1",
"strand": false,
"transcript": "ENST00000873383.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 267,
"aa_ref": "V",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 662,
"cds_end": null,
"cds_length": 804,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873382.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.472_474delGTCinsATA",
"hgvs_p": "p.Val158Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543441.1",
"strand": false,
"transcript": "ENST00000873382.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 235,
"aa_ref": "V",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 708,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349853.2",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.376_378delGTCinsATA",
"hgvs_p": "p.Val126Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336782.1",
"strand": false,
"transcript": "NM_001349853.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 215,
"aa_ref": "V",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 735,
"cdna_start": 658,
"cds_end": null,
"cds_length": 650,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434930.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.571_573delGTCinsATA",
"hgvs_p": "p.Val191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387507.1",
"strand": false,
"transcript": "ENST00000434930.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 180,
"aa_ref": "V",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 472,
"cds_end": null,
"cds_length": 543,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363839.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.211_213delGTCinsATA",
"hgvs_p": "p.Val71Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350768.1",
"strand": false,
"transcript": "NM_001363839.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 180,
"aa_ref": "V",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": 506,
"cds_end": null,
"cds_length": 543,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406423.5",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.211_213delGTCinsATA",
"hgvs_p": "p.Val71Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384392.1",
"strand": false,
"transcript": "ENST00000406423.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 89,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 597,
"cdna_start": 501,
"cds_end": null,
"cds_length": 270,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424350.5",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.172_174delGTCinsATA",
"hgvs_p": "p.Val58Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393035.1",
"strand": false,
"transcript": "ENST00000424350.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 202,
"aa_ref": "V",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 538,
"cds_end": null,
"cds_length": 609,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441140.1",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.277_279delGTCinsATA",
"hgvs_p": "p.Val93Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297096.1",
"strand": false,
"transcript": "XM_047441140.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 180,
"aa_ref": "V",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 472,
"cds_end": null,
"cds_length": 543,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529882.3",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.211_213delGTCinsATA",
"hgvs_p": "p.Val71Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528184.1",
"strand": false,
"transcript": "XM_011529882.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 206,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 623,
"cdna_start": null,
"cds_end": null,
"cds_length": 621,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458278.6",
"gene_hgnc_id": 25185,
"gene_symbol": "ANKRD54",
"hgvs_c": "c.314-74_314-72delGTCinsATA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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