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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-101353196-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101353196&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101353196,
"ref": "C",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "ENST00000308731.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1906G>T",
"hgvs_p": "p.Glu636*",
"transcript": "NM_000061.3",
"protein_id": "NP_000052.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 659,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000308731.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1906G>T",
"hgvs_p": "p.Glu636*",
"transcript": "ENST00000308731.8",
"protein_id": "ENSP00000308176.8",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 659,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_000061.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.2008G>T",
"hgvs_p": "p.Glu670*",
"transcript": "ENST00000621635.4",
"protein_id": "ENSP00000483570.1",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 693,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.2008G>T",
"hgvs_p": "p.Glu670*",
"transcript": "NM_001287344.2",
"protein_id": "NP_001274273.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 693,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1906G>T",
"hgvs_p": "p.Glu636*",
"transcript": "ENST00000695614.1",
"protein_id": "ENSP00000512053.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 659,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1906G>T",
"hgvs_p": "p.Glu636*",
"transcript": "ENST00000695615.1",
"protein_id": "ENSP00000512054.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 659,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1903G>T",
"hgvs_p": "p.Glu635*",
"transcript": "ENST00000695617.1",
"protein_id": "ENSP00000512056.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 658,
"cds_start": 1903,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1900G>T",
"hgvs_p": "p.Glu634*",
"transcript": "ENST00000695623.1",
"protein_id": "ENSP00000512063.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 657,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1843G>T",
"hgvs_p": "p.Glu615*",
"transcript": "ENST00000695622.1",
"protein_id": "ENSP00000512062.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 638,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1378G>T",
"hgvs_p": "p.Glu460*",
"transcript": "NM_001287345.2",
"protein_id": "NP_001274274.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 483,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.1378G>T",
"hgvs_p": "p.Glu460*",
"transcript": "ENST00000703407.1",
"protein_id": "ENSP00000512057.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 483,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.631G>T",
"hgvs_p": "p.Glu211*",
"transcript": "ENST00000695630.1",
"protein_id": "ENSP00000512069.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 234,
"cds_start": 631,
"cds_end": null,
"cds_length": 705,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_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.346G>T",
"hgvs_p": "p.Glu116*",
"transcript": "ENST00000695629.1",
"protein_id": "ENSP00000512068.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 139,
"cds_start": 346,
"cds_end": null,
"cds_length": 420,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.165G>T",
"hgvs_p": "p.Met55Ile",
"transcript": "ENST00000695631.1",
"protein_id": "ENSP00000512070.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 67,
"cds_start": 165,
"cds_end": null,
"cds_length": 204,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 238,
"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.271G>T",
"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": [
"splice_region_variant",
"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.3423G>T",
"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": [
"splice_region_variant",
"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.4062G>T",
"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": [
"splice_region_variant",
"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.*1751G>T",
"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": [
"splice_region_variant",
"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.*1655G>T",
"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": [
"splice_region_variant",
"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.*1616G>T",
"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": [
"splice_region_variant",
"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.*1832G>T",
"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": [
"splice_region_variant",
"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.*331G>T",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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],
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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
}