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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: 7-16694971-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=16694971&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 16694971,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014038.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "NM_014038.3",
"protein_id": "NP_054757.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258761.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014038.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000258761.8",
"protein_id": "ENSP00000258761.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014038.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258761.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000415365.5",
"protein_id": "ENSP00000403481.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 407,
"cds_start": 789,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415365.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "n.*167G>A",
"hgvs_p": null,
"transcript": "ENST00000437745.5",
"protein_id": "ENSP00000406395.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437745.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "n.*167G>A",
"hgvs_p": null,
"transcript": "ENST00000437745.5",
"protein_id": "ENSP00000406395.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437745.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "NM_001159767.2",
"protein_id": "NP_001153239.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159767.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "NM_001362717.2",
"protein_id": "NP_001349646.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362717.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000433922.6",
"protein_id": "ENSP00000397249.2",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433922.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000897357.1",
"protein_id": "ENSP00000567416.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897357.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000897358.1",
"protein_id": "ENSP00000567417.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897358.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000897359.1",
"protein_id": "ENSP00000567418.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897359.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000897360.1",
"protein_id": "ENSP00000567419.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897360.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000916422.1",
"protein_id": "ENSP00000586481.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916422.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000948943.1",
"protein_id": "ENSP00000619002.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948943.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.561G>A",
"hgvs_p": "p.Gln187Gln",
"transcript": "ENST00000405202.5",
"protein_id": "ENSP00000385577.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 343,
"cds_start": 561,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405202.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gln181Gln",
"transcript": "ENST00000948944.1",
"protein_id": "ENSP00000619003.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 337,
"cds_start": 543,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948944.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Gln181Gln",
"transcript": "ENST00000948945.1",
"protein_id": "ENSP00000619004.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 337,
"cds_start": 543,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948945.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000446596.5",
"protein_id": "ENSP00000412750.1",
"transcript_support_level": 3,
"aa_start": 263,
"aa_end": null,
"aa_length": 273,
"cds_start": 789,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446596.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Gln69Gln",
"transcript": "NM_001362718.2",
"protein_id": "NP_001349647.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 225,
"cds_start": 207,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362718.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Gln69Gln",
"transcript": "NM_001362719.2",
"protein_id": "NP_001349648.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 225,
"cds_start": 207,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362719.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Gln69Gln",
"transcript": "ENST00000407633.1",
"protein_id": "ENSP00000384617.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 225,
"cds_start": 207,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407633.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Gln263Gln",
"transcript": "XM_006715707.2",
"protein_id": "XP_006715770.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 419,
"cds_start": 789,
"cds_end": null,
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"cdna_start": null,
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{
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"BP7"
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"verdict": "Likely_benign",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}