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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-145822435-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=145822435&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PP2",
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLITRK2",
"hgnc_id": 13449,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"inheritance_mode": "XL",
"pathogenic_score": 1,
"score": -5,
"transcript": "NM_032539.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS2",
"acmg_score": -5,
"allele_count_reference_population": 202,
"alphamissense_prediction": null,
"alphamissense_score": 0.0841,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08016109466552734,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8421,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_032539.5",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335565.6",
"protein_coding": true,
"protein_id": "NP_115928.1",
"strand": true,
"transcript": "NM_032539.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8421,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000335565.6",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032539.5",
"protein_coding": true,
"protein_id": "ENSP00000334374.5",
"strand": true,
"transcript": "ENST00000335565.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7938,
"cdna_start": 517,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001144003.3",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137475.1",
"strand": true,
"transcript": "NM_001144003.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 505,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001144004.3",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137476.1",
"strand": true,
"transcript": "NM_001144004.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7948,
"cdna_start": 527,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001144005.3",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137477.1",
"strand": true,
"transcript": "NM_001144005.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": 737,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144006.2",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137478.1",
"strand": true,
"transcript": "NM_001144006.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144008.2",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137480.1",
"strand": true,
"transcript": "NM_001144008.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3997,
"cdna_start": 590,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001144009.2",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137481.1",
"strand": true,
"transcript": "NM_001144009.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 727,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144010.2",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137482.1",
"strand": true,
"transcript": "NM_001144010.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7672,
"cdna_start": 4265,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000370490.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359521.1",
"strand": true,
"transcript": "ENST00000370490.1",
"transcript_support_level": 6
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 527,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867861.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537920.1",
"strand": true,
"transcript": "ENST00000867861.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 743,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867862.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537921.1",
"strand": true,
"transcript": "ENST00000867862.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 845,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867863.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537922.1",
"strand": true,
"transcript": "ENST00000867863.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 509,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867864.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537923.1",
"strand": true,
"transcript": "ENST00000867864.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 845,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4868,
"cdna_start": 1463,
"cds_end": null,
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"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867865.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537924.1",
"strand": true,
"transcript": "ENST00000867865.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 534,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867866.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537925.1",
"strand": true,
"transcript": "ENST00000867866.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": 788,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000867867.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537926.1",
"strand": true,
"transcript": "ENST00000867867.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 410,
"cds_end": null,
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"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000867868.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537927.1",
"strand": true,
"transcript": "ENST00000867868.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 845,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3787,
"cdna_start": 380,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000867869.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537928.1",
"strand": true,
"transcript": "ENST00000867869.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": 913,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966678.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636737.1",
"strand": true,
"transcript": "ENST00000966678.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2538,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966679.1",
"gene_hgnc_id": 13449,
"gene_symbol": "SLITRK2",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Ser",
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