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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: 7-66092567-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66092567&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66092567,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000048.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_000048.4",
"protein_id": "NP_000039.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 464,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304874.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000048.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000304874.14",
"protein_id": "ENSP00000307188.9",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 464,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000048.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304874.14"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000395332.8",
"protein_id": "ENSP00000378741.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 464,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395332.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249319",
"gene_hgnc_id": null,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Arg156His",
"transcript": "ENST00000450043.2",
"protein_id": "ENSP00000396527.2",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 306,
"cds_start": 467,
"cds_end": null,
"cds_length": 922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450043.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416His",
"transcript": "ENST00000906815.1",
"protein_id": "ENSP00000576874.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 495,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906815.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395His",
"transcript": "ENST00000906826.1",
"protein_id": "ENSP00000576885.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 474,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906826.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395His",
"transcript": "ENST00000906828.1",
"protein_id": "ENSP00000576887.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 474,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906828.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000952733.1",
"protein_id": "ENSP00000622792.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 473,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952733.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001024943.2",
"protein_id": "NP_001020114.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 464,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024943.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000906801.1",
"protein_id": "ENSP00000576860.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 464,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906801.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "ENST00000906807.1",
"protein_id": "ENSP00000576866.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 463,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906807.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "ENST00000906824.1",
"protein_id": "ENSP00000576883.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 449,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906824.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His",
"transcript": "ENST00000952732.1",
"protein_id": "ENSP00000622791.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 445,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952732.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365His",
"transcript": "NM_001024944.2",
"protein_id": "NP_001020115.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 444,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024944.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365His",
"transcript": "ENST00000395331.4",
"protein_id": "ENSP00000378740.3",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 444,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395331.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365His",
"transcript": "ENST00000906808.1",
"protein_id": "ENSP00000576867.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 444,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906808.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359His",
"transcript": "NM_001024946.2",
"protein_id": "NP_001020117.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 438,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024946.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359His",
"transcript": "ENST00000380839.9",
"protein_id": "ENSP00000370219.4",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 438,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380839.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359His",
"transcript": "ENST00000673518.1",
"protein_id": "ENSP00000499889.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 438,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673518.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359His",
"transcript": "ENST00000906800.1",
"protein_id": "ENSP00000576859.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 438,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906800.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359His",
"transcript": "ENST00000906825.1",
"protein_id": "ENSP00000576884.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 438,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906825.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"transcript": "ENST00000906804.1",
"protein_id": "ENSP00000576863.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 437,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906804.1"
},
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"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000450043.2",
"gene_symbol": "ENSG00000249319",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Arg156His"
}
],
"clinvar_disease": "Argininosuccinate lyase deficiency",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Argininosuccinate lyase deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}