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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-101362605-GCTGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101362605&ref=GCTGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101362605,
"ref": "GCTGT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000308731.8",
"consequences": [
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "NM_000061.3",
"protein_id": "NP_000052.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 659,
"cds_start": 472,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000308731.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000308731.8",
"protein_id": "ENSP00000308176.8",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 659,
"cds_start": 472,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_000061.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.574_577delACAG",
"hgvs_p": "p.Thr192fs",
"transcript": "ENST00000621635.4",
"protein_id": "ENSP00000483570.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 693,
"cds_start": 574,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.574_577delACAG",
"hgvs_p": "p.Thr192fs",
"transcript": "NM_001287344.2",
"protein_id": "NP_001274273.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 693,
"cds_start": 574,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000695614.1",
"protein_id": "ENSP00000512053.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 659,
"cds_start": 472,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000695615.1",
"protein_id": "ENSP00000512054.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 659,
"cds_start": 472,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.469_472delACAG",
"hgvs_p": "p.Thr157fs",
"transcript": "ENST00000695617.1",
"protein_id": "ENSP00000512056.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 658,
"cds_start": 469,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000695623.1",
"protein_id": "ENSP00000512063.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 657,
"cds_start": 472,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000695625.1",
"protein_id": "ENSP00000512064.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 648,
"cds_start": 472,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000695622.1",
"protein_id": "ENSP00000512062.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 638,
"cds_start": 472,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "NM_001287345.2",
"protein_id": "NP_001274274.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 483,
"cds_start": 472,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs",
"transcript": "ENST00000703407.1",
"protein_id": "ENSP00000512057.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 483,
"cds_start": 472,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2203,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.252_255delACAG",
"hgvs_p": null,
"transcript": "ENST00000464006.2",
"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": 801,
"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": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.632_635delACAG",
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.630_633delACAG",
"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": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*317_*320delACAG",
"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": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*221_*224delACAG",
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*317_*320delACAG",
"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": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*317_*320delACAG",
"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": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.472_475delACAG",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*317_*320delACAG",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*221_*224delACAG",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*317_*320delACAG",
"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,
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"cdna_length": 2431,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*317_*320delACAG",
"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
}
],
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"dbsnp": "rs193922128",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.555,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000308731.8",
"gene_symbol": "BTK",
"hgnc_id": 1133,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.472_475delACAG",
"hgvs_p": "p.Thr158fs"
}
],
"clinvar_disease": "X-linked agammaglobulinemia,X-linked agammaglobulinemia with growth hormone deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "X-linked agammaglobulinemia|X-linked agammaglobulinemia with growth hormone deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}