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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: 14-35303372-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35303372&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 35303372,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000261479.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.77-4622A>G",
"hgvs_p": null,
"transcript": "NM_002791.3",
"protein_id": "NP_002782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": "ENST00000261479.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.77-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000261479.9",
"protein_id": "ENSP00000261479.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": "NM_002791.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258790",
"gene_hgnc_id": null,
"hgvs_c": "n.*892-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000557565.1",
"protein_id": "ENSP00000454657.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.77-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000553809.5",
"protein_id": "ENSP00000452603.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.20-4622A>G",
"hgvs_p": null,
"transcript": "NM_001282234.1",
"protein_id": "NP_001269163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.20-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000540871.5",
"protein_id": "ENSP00000444844.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.77-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000556506.1",
"protein_id": "ENSP00000450528.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-161-4622A>G",
"hgvs_p": null,
"transcript": "NM_001282232.1",
"protein_id": "NP_001269161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-66-5542A>G",
"hgvs_p": null,
"transcript": "NM_001282233.1",
"protein_id": "NP_001269162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-161-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000555764.5",
"protein_id": "ENSP00000452566.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-66-5542A>G",
"hgvs_p": null,
"transcript": "ENST00000622405.4",
"protein_id": "ENSP00000479620.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.77-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000627895.2",
"protein_id": "ENSP00000485817.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "n.*198-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000553688.5",
"protein_id": "ENSP00000450844.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "n.77-5542A>G",
"hgvs_p": null,
"transcript": "ENST00000554541.5",
"protein_id": "ENSP00000451958.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "n.77-4622A>G",
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"transcript": "ENST00000554620.5",
"protein_id": "ENSP00000451432.1",
"transcript_support_level": 5,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "n.166-4622A>G",
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"transcript": "ENST00000554843.5",
"protein_id": null,
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},
{
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],
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"gene_symbol": "PSMA6",
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"hgvs_c": "n.77-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000554961.5",
"protein_id": "ENSP00000451254.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "n.159-4622A>G",
"hgvs_p": null,
"transcript": "ENST00000556167.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "n.237-4622A>G",
"hgvs_p": null,
"transcript": "NR_104110.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "PRORP-PSMA6",
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"transcript": "NR_182666.1",
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},
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"strand": true,
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],
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"intron_rank": 8,
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"gene_symbol": "PRORP-PSMA6",
"gene_hgnc_id": null,
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"transcript": "NR_182667.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRORP-PSMA6",
"gene_hgnc_id": null,
"hgvs_c": "n.3022-4622A>G",
"hgvs_p": null,
"transcript": "NR_182668.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRORP-PSMA6",
"gene_hgnc_id": null,
"hgvs_c": "n.3154-4622A>G",
"hgvs_p": null,
"transcript": "NR_182669.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 3983,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"dbsnp": "rs12878391",
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"hom_count_reference_population": 4270,
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"gnomad_genomes_af": 0.23376,
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"gnomad_genomes_ac": 35524,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4270,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.237,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000261479.9",
"gene_symbol": "PSMA6",
"hgnc_id": 9535,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.77-4622A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000557565.1",
"gene_symbol": "ENSG00000258790",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*892-4622A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_182666.1",
"gene_symbol": "PRORP-PSMA6",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3152-4622A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}