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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: 6-31639211-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31639211&ref=G&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31639211,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001387994.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3409C>G",
"hgvs_p": "p.Gln1137Glu",
"transcript": "NM_001387994.1",
"protein_id": "NP_001374923.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": "ENST00000676615.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3409C>G",
"hgvs_p": "p.Gln1137Glu",
"transcript": "ENST00000676615.2",
"protein_id": "ENSP00000502941.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": "NM_001387994.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3301C>G",
"hgvs_p": "p.Gln1101Glu",
"transcript": "ENST00000211379.9",
"protein_id": "ENSP00000211379.5",
"transcript_support_level": 1,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3301,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3301C>G",
"hgvs_p": "p.Gln1101Glu",
"transcript": "ENST00000375976.8",
"protein_id": "ENSP00000365143.4",
"transcript_support_level": 1,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3301,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3461,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3223C>G",
"hgvs_p": "p.Gln1075Glu",
"transcript": "ENST00000375964.11",
"protein_id": "ENSP00000365131.6",
"transcript_support_level": 1,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 3518,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3442C>G",
"hgvs_p": "p.Gln1148Glu",
"transcript": "ENST00000676571.1",
"protein_id": "ENSP00000504005.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3436C>G",
"hgvs_p": "p.Gln1146Glu",
"transcript": "NM_001388012.1",
"protein_id": "NP_001374941.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3409C>G",
"hgvs_p": "p.Gln1137Glu",
"transcript": "NM_001387989.1",
"protein_id": "NP_001374918.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3571,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3409C>G",
"hgvs_p": "p.Gln1137Glu",
"transcript": "NM_001387996.1",
"protein_id": "NP_001374925.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3684,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3409C>G",
"hgvs_p": "p.Gln1137Glu",
"transcript": "NM_001388011.1",
"protein_id": "NP_001374940.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3409C>G",
"hgvs_p": "p.Gln1137Glu",
"transcript": "NM_001388020.1",
"protein_id": "NP_001374949.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3406C>G",
"hgvs_p": "p.Gln1136Glu",
"transcript": "NM_001387988.1",
"protein_id": "NP_001374917.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3406C>G",
"hgvs_p": "p.Gln1136Glu",
"transcript": "NM_001387993.1",
"protein_id": "NP_001374922.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3657,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3406C>G",
"hgvs_p": "p.Gln1136Glu",
"transcript": "NM_001387995.1",
"protein_id": "NP_001374924.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3681,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3406C>G",
"hgvs_p": "p.Gln1136Glu",
"transcript": "NM_001388010.1",
"protein_id": "NP_001374939.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3406C>G",
"hgvs_p": "p.Gln1136Glu",
"transcript": "NM_001388019.1",
"protein_id": "NP_001374948.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3725,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3355C>G",
"hgvs_p": "p.Gln1119Glu",
"transcript": "NM_001387991.1",
"protein_id": "NP_001374920.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3355C>G",
"hgvs_p": "p.Gln1119Glu",
"transcript": "NM_001387992.1",
"protein_id": "NP_001374921.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3328C>G",
"hgvs_p": "p.Gln1110Glu",
"transcript": "NM_001388009.1",
"protein_id": "NP_001374938.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3325C>G",
"hgvs_p": "p.Gln1109Glu",
"transcript": "NM_001388008.1",
"protein_id": "NP_001374937.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3301C>G",
"hgvs_p": "p.Gln1101Glu",
"transcript": "NM_001098534.2",
"protein_id": "NP_001092004.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3301,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3458,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.3301C>G",
"hgvs_p": "p.Gln1101Glu",
"transcript": "NM_001387961.1",
"protein_id": "NP_001374890.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3301,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3463,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
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{
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}