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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-24179721-CCAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=24179721&ref=CCAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 24179721,
"ref": "CCAG",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001330327.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "NM_003410.4",
"protein_id": "NP_003401.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304543.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003410.4"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000304543.10",
"protein_id": "ENSP00000304985.5",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003410.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304543.10"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000379177.5",
"protein_id": "ENSP00000368475.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379177.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.-41-27601_-41-27599delCAG",
"hgvs_p": null,
"transcript": "ENST00000539115.5",
"protein_id": "ENSP00000438233.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": null,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539115.5"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "NM_001330327.2",
"protein_id": "NP_001317256.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330327.2"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000379188.7",
"protein_id": "ENSP00000368486.4",
"transcript_support_level": 5,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379188.7"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000867190.1",
"protein_id": "ENSP00000537249.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867190.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000867193.1",
"protein_id": "ENSP00000537252.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867193.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000867194.1",
"protein_id": "ENSP00000537253.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867194.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000867195.1",
"protein_id": "ENSP00000537254.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867195.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000923538.1",
"protein_id": "ENSP00000593597.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923538.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000949205.1",
"protein_id": "ENSP00000619264.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949205.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000949208.1",
"protein_id": "ENSP00000619267.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949208.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000949211.1",
"protein_id": "ENSP00000619270.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949211.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.718_720delCAG",
"hgvs_p": "p.Gln240del",
"transcript": "ENST00000949215.1",
"protein_id": "ENSP00000619274.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 844,
"cds_start": 718,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949215.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "NM_001178084.2",
"protein_id": "NP_001171555.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178084.2"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "NM_001178085.1",
"protein_id": "NP_001171556.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178085.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000867191.1",
"protein_id": "ENSP00000537250.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867191.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000867192.1",
"protein_id": "ENSP00000537251.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867192.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000923535.1",
"protein_id": "ENSP00000593594.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923535.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000923536.1",
"protein_id": "ENSP00000593595.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 805,
"cds_start": 601,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923536.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFX",
"gene_hgnc_id": 12869,
"hgvs_c": "c.601_603delCAG",
"hgvs_p": "p.Gln201del",
"transcript": "ENST00000923537.1",
"protein_id": "ENSP00000593596.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 4.208,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
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{
"score": 3,
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"criteria": [
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"PM4_Supporting"
],
"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}