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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: X-101360729-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101360729&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BTK",
"hgnc_id": 1133,
"hgvs_c": "c.717G>T",
"hgvs_p": "p.Glu239Asp",
"inheritance_mode": "XL",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_001287344.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -15,
"allele_count_reference_population": 2111,
"alphamissense_prediction": null,
"alphamissense_score": 0.1655,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "BTK-related disorder,X-linked agammaglobulinemia,X-linked agammaglobulinemia with growth hormone deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:9 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006190508604049683,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 659,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1980,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000061.3",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308731.8",
"protein_coding": true,
"protein_id": "NP_000052.1",
"strand": false,
"transcript": "NM_000061.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 659,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1980,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000308731.8",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000061.3",
"protein_coding": true,
"protein_id": "ENSP00000308176.8",
"strand": false,
"transcript": "ENST00000308731.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 964,
"cds_end": null,
"cds_length": 2082,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000621635.4",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.717G>T",
"hgvs_p": "p.Glu239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483570.1",
"strand": false,
"transcript": "ENST00000621635.4",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2764,
"cdna_start": 964,
"cds_end": null,
"cds_length": 2082,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001287344.2",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.717G>T",
"hgvs_p": "p.Glu239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274273.1",
"strand": false,
"transcript": "NM_001287344.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 686,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 764,
"cds_end": null,
"cds_length": 2061,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944957.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615016.1",
"strand": false,
"transcript": "ENST00000944957.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 659,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1980,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000695614.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512053.1",
"strand": false,
"transcript": "ENST00000695614.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 659,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1980,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000695615.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512054.1",
"strand": false,
"transcript": "ENST00000695615.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 659,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1980,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896540.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566599.1",
"strand": false,
"transcript": "ENST00000896540.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 659,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1980,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944955.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615014.1",
"strand": false,
"transcript": "ENST00000944955.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 658,
"aa_ref": "E",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1977,
"cds_start": 612,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000695617.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.612G>T",
"hgvs_p": "p.Glu204Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512056.1",
"strand": false,
"transcript": "ENST00000695617.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 657,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1974,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000695623.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512063.1",
"strand": false,
"transcript": "ENST00000695623.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 648,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1947,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000695625.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512064.1",
"strand": false,
"transcript": "ENST00000695625.1",
"transcript_support_level": null
},
{
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"aa_length": 638,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1917,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000695622.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512062.1",
"strand": false,
"transcript": "ENST00000695622.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 626,
"aa_ref": "E",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1881,
"cds_start": 516,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000914420.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Glu172Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584479.1",
"strand": false,
"transcript": "ENST00000914420.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 616,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1851,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944956.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Glu162Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615015.1",
"strand": false,
"transcript": "ENST00000944956.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 614,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1845,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944958.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615017.1",
"strand": false,
"transcript": "ENST00000944958.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 483,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1452,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001287345.2",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274274.1",
"strand": false,
"transcript": "NM_001287345.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 483,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1452,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000703407.1",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "c.615G>T",
"hgvs_p": "p.Glu205Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512057.1",
"strand": false,
"transcript": "ENST00000703407.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 801,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000464006.2",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "n.395G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464006.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000478995.2",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "n.775G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478995.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488970.2",
"gene_hgnc_id": 1133,
"gene_symbol": "BTK",
"hgvs_c": "n.773G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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]
}