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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: 1-223359323-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223359323&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SUSD4",
"hgnc_id": 25470,
"hgvs_c": "c.200+3955C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001410929.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 9501,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017982.4",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366878.9",
"protein_coding": true,
"protein_id": "NP_060452.3",
"strand": false,
"transcript": "NM_017982.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366878.9",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017982.4",
"protein_coding": true,
"protein_id": "ENSP00000355843.4",
"strand": false,
"transcript": "ENST00000366878.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 462,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": null,
"cds_end": null,
"cds_length": 1389,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000608996.5",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.58+3955C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477432.1",
"strand": false,
"transcript": "ENST00000608996.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484758.6",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477374.1",
"strand": false,
"transcript": "ENST00000484758.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344029.6",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339926.6",
"strand": false,
"transcript": "ENST00000344029.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410929.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.200+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397858.1",
"strand": false,
"transcript": "NM_001410929.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681285.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.200+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505301.1",
"strand": false,
"transcript": "ENST00000681285.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 529,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": null,
"cds_end": null,
"cds_length": 1590,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680429.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.200+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504955.1",
"strand": false,
"transcript": "ENST00000680429.1",
"transcript_support_level": null
},
{
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"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437664.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424593.1",
"strand": false,
"transcript": "NM_001437664.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343846.7",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344219.3",
"strand": false,
"transcript": "ENST00000343846.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000681305.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000505262.1",
"strand": false,
"transcript": "ENST00000681305.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000681669.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000505495.1",
"strand": false,
"transcript": "ENST00000681669.1",
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},
{
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],
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"feature": "ENST00000873853.1",
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},
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000873854.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543913.1",
"strand": false,
"transcript": "ENST00000873854.1",
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},
{
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],
"exon_count": 9,
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"feature": "ENST00000873855.1",
"gene_hgnc_id": 25470,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543914.1",
"strand": false,
"transcript": "ENST00000873855.1",
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},
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000494793.6",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000476954.1",
"strand": false,
"transcript": "ENST00000494793.6",
"transcript_support_level": 5
},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000948563.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
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"mane_plus": null,
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"strand": false,
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},
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],
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"feature": "NM_001438681.1",
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},
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],
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"feature": "NM_001037175.3",
"gene_hgnc_id": 25470,
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"hgvs_c": "c.148+3955C>T",
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"strand": false,
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},
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"consequences": [
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],
"exon_count": 7,
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"feature": "NM_001438680.1",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.148+3955C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425609.1",
"strand": false,
"transcript": "NM_001438680.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017001583.2",
"gene_hgnc_id": 25470,
"gene_symbol": "SUSD4",
"hgvs_c": "c.200+3955C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016857072.1",
"strand": false,
"transcript": "XM_017001583.2",
"transcript_support_level": null
},
{
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