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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: 1-21470123-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21470123&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21470123,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000318249.10",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.344-509A>G",
"hgvs_p": null,
"transcript": "NM_032264.6",
"protein_id": "NP_115640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": "ENST00000318249.10",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.344-509A>G",
"hgvs_p": null,
"transcript": "ENST00000318249.10",
"protein_id": "ENSP00000316782.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": "NM_032264.6",
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "n.*932-509A>G",
"hgvs_p": null,
"transcript": "ENST00000434838.6",
"protein_id": "ENSP00000391865.2",
"transcript_support_level": 5,
"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": 2727,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.344-509A>G",
"hgvs_p": null,
"transcript": "NM_001256416.4",
"protein_id": "NP_001243345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3731,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.344-509A>G",
"hgvs_p": null,
"transcript": "ENST00000342104.9",
"protein_id": "ENSP00000340336.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3704,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001330381.3",
"protein_id": "NP_001317310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4168,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001377491.1",
"protein_id": "NP_001364420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4110,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001377492.1",
"protein_id": "NP_001364421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4379,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001377493.1",
"protein_id": "NP_001364422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4354,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001377494.1",
"protein_id": "NP_001364423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4193,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001377495.1",
"protein_id": "NP_001364424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
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"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "ENST00000619554.1",
"protein_id": "ENSP00000484028.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.134-509A>G",
"hgvs_p": null,
"transcript": "NM_001256417.4",
"protein_id": "NP_001243346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
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"cds_length": 1692,
"cdna_start": null,
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"cdna_length": 3557,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.134-509A>G",
"hgvs_p": null,
"transcript": "ENST00000454000.6",
"protein_id": "ENSP00000415711.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.176-509A>G",
"hgvs_p": null,
"transcript": "NM_001377496.1",
"protein_id": "NP_001364425.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "n.*711-509A>G",
"hgvs_p": null,
"transcript": "ENST00000318220.10",
"protein_id": "ENSP00000316739.7",
"transcript_support_level": 2,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "n.1224-509A>G",
"hgvs_p": null,
"transcript": "NR_046176.4",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.344-509A>G",
"hgvs_p": null,
"transcript": "XM_047432037.1",
"protein_id": "XP_047287993.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
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"hgvs_c": "c.344-509A>G",
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"transcript": "XM_047432038.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
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"gene_symbol": "NBPF3",
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"hgvs_c": "c.344-509A>G",
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"transcript": "XM_006710957.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"hgvs_c": "c.344-509A>G",
"hgvs_p": null,
"transcript": "XM_047432039.1",
"protein_id": "XP_047287995.1",
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"feature": null
}
],
"gene_symbol": "NBPF3",
"gene_hgnc_id": 25076,
"dbsnp": "rs7537914",
"frequency_reference_population": 0.67032903,
"hom_count_reference_population": 35356,
"allele_count_reference_population": 101949,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.670329,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 101949,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 35356,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.778,
"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": "ENST00000318249.10",
"gene_symbol": "NBPF3",
"hgnc_id": 25076,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.344-509A>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
}