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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-101353282-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101353282&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101353282,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000308731.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Ala607Asp",
"transcript": "NM_000061.3",
"protein_id": "NP_000052.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 659,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000308731.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Ala607Asp",
"transcript": "ENST00000308731.8",
"protein_id": "ENSP00000308176.8",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 659,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_000061.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1922C>A",
"hgvs_p": "p.Ala641Asp",
"transcript": "ENST00000621635.4",
"protein_id": "ENSP00000483570.1",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 693,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1922C>A",
"hgvs_p": "p.Ala641Asp",
"transcript": "NM_001287344.2",
"protein_id": "NP_001274273.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 693,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Ala607Asp",
"transcript": "ENST00000695614.1",
"protein_id": "ENSP00000512053.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 659,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Ala607Asp",
"transcript": "ENST00000695615.1",
"protein_id": "ENSP00000512054.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 659,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1817C>A",
"hgvs_p": "p.Ala606Asp",
"transcript": "ENST00000695617.1",
"protein_id": "ENSP00000512056.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 658,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1814C>A",
"hgvs_p": "p.Ala605Asp",
"transcript": "ENST00000695623.1",
"protein_id": "ENSP00000512063.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 657,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Ala607Asp",
"transcript": "ENST00000695625.1",
"protein_id": "ENSP00000512064.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 648,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Ala586Asp",
"transcript": "ENST00000695622.1",
"protein_id": "ENSP00000512062.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 638,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1292C>A",
"hgvs_p": "p.Ala431Asp",
"transcript": "NM_001287345.2",
"protein_id": "NP_001274274.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 483,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1292C>A",
"hgvs_p": "p.Ala431Asp",
"transcript": "ENST00000703407.1",
"protein_id": "ENSP00000512057.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 483,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Ala182Asp",
"transcript": "ENST00000695630.1",
"protein_id": "ENSP00000512069.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 234,
"cds_start": 545,
"cds_end": null,
"cds_length": 705,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ala87Asp",
"transcript": "ENST00000695629.1",
"protein_id": "ENSP00000512068.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 139,
"cds_start": 260,
"cds_end": null,
"cds_length": 420,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 501,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.185C>A",
"hgvs_p": null,
"transcript": "ENST00000470069.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 424,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.3337C>A",
"hgvs_p": null,
"transcript": "ENST00000478995.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 3929,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.3976C>A",
"hgvs_p": null,
"transcript": "ENST00000488970.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 4568,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*1665C>A",
"hgvs_p": null,
"transcript": "ENST00000695616.1",
"protein_id": "ENSP00000512055.1",
"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": 2677,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*1569C>A",
"hgvs_p": null,
"transcript": "ENST00000695618.1",
"protein_id": "ENSP00000512058.1",
"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": 2673,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*1530C>A",
"hgvs_p": null,
"transcript": "ENST00000695619.1",
"protein_id": "ENSP00000512059.1",
"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": 2431,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*1746C>A",
"hgvs_p": null,
"transcript": "ENST00000695620.1",
"protein_id": "ENSP00000512060.1",
"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": 2666,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*245C>A",
"hgvs_p": null,
"transcript": "ENST00000695621.1",
"protein_id": "ENSP00000512061.1",
"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": 2624,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.1125C>A",
"hgvs_p": null,
"transcript": "ENST00000695624.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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{
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],
"clinvar_disease": "X-linked agammaglobulinemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "X-linked agammaglobulinemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}