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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: 2-100393748-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=100393748&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHST10",
"hgnc_id": 19650,
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004854.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.8796,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7663024663925171,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004854.5",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264249.8",
"protein_coding": true,
"protein_id": "NP_004845.1",
"strand": false,
"transcript": "NM_004854.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000264249.8",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004854.5",
"protein_coding": true,
"protein_id": "ENSP00000264249.3",
"strand": false,
"transcript": "ENST00000264249.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409701.5",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387309.1",
"strand": false,
"transcript": "ENST00000409701.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 377,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1134,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000972083.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Asp211His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642142.1",
"strand": false,
"transcript": "ENST00000972083.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866824.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536883.1",
"strand": false,
"transcript": "ENST00000866824.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866825.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536884.1",
"strand": false,
"transcript": "ENST00000866825.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866826.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536885.1",
"strand": false,
"transcript": "ENST00000866826.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866827.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536886.1",
"strand": false,
"transcript": "ENST00000866827.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866828.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536887.1",
"strand": false,
"transcript": "ENST00000866828.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866829.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536888.1",
"strand": false,
"transcript": "ENST00000866829.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866831.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536890.1",
"strand": false,
"transcript": "ENST00000866831.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866832.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536891.1",
"strand": false,
"transcript": "ENST00000866832.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 356,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866833.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536892.1",
"strand": false,
"transcript": "ENST00000866833.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933567.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603626.1",
"strand": false,
"transcript": "ENST00000933567.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000933568.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603627.1",
"strand": false,
"transcript": "ENST00000933568.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000933569.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603628.1",
"strand": false,
"transcript": "ENST00000933569.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933570.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603629.1",
"strand": false,
"transcript": "ENST00000933570.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 356,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933571.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603630.1",
"strand": false,
"transcript": "ENST00000933571.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933572.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603631.1",
"strand": false,
"transcript": "ENST00000933572.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933573.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603632.1",
"strand": false,
"transcript": "ENST00000933573.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1071,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933574.1",
"gene_hgnc_id": 19650,
"gene_symbol": "CHST10",
"hgvs_c": "c.568G>C",
"hgvs_p": "p.Asp190His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}