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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: 7-87504333-GAC-TAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87504333&ref=GAC&alt=TAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCB1",
"hgnc_id": 40,
"hgvs_c": "c.3961_3963delGTCinsATA",
"hgvs_p": "p.Val1321Ile",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001348945.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 3889,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348946.2",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000622132.5",
"protein_coding": true,
"protein_id": "NP_001335875.1",
"strand": false,
"transcript": "NM_001348946.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 3889,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000622132.5",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001348946.2",
"protein_coding": true,
"protein_id": "ENSP00000478255.1",
"strand": false,
"transcript": "ENST00000622132.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 4246,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265724.8",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265724.3",
"strand": false,
"transcript": "ENST00000265724.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000488737.6",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "n.1393_1395delGTCinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488737.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "V",
"aa_start": 1321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5586,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 4053,
"cds_start": 3961,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348945.2",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3961_3963delGTCinsATA",
"hgvs_p": "p.Val1321Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335874.1",
"strand": false,
"transcript": "NM_001348945.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 4218,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000927.5",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000918.2",
"strand": false,
"transcript": "NM_000927.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 4071,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348944.2",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335873.1",
"strand": false,
"transcript": "NM_001348944.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 3955,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890305.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560364.1",
"strand": false,
"transcript": "ENST00000890305.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5434,
"cdna_start": 4281,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961093.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631152.1",
"strand": false,
"transcript": "ENST00000961093.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "V",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": 4042,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961094.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3751_3753delGTCinsATA",
"hgvs_p": "p.Val1251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631153.1",
"strand": false,
"transcript": "ENST00000961094.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "V",
"aa_start": 1250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4358,
"cdna_start": 3888,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3748,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890301.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3748_3750delGTCinsATA",
"hgvs_p": "p.Val1250Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560360.1",
"strand": false,
"transcript": "ENST00000890301.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "V",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4928,
"cdna_start": 3805,
"cds_end": null,
"cds_length": 3759,
"cds_start": 3667,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890297.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3667_3669delGTCinsATA",
"hgvs_p": "p.Val1223Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560356.1",
"strand": false,
"transcript": "ENST00000890297.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "V",
"aa_start": 1214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 3779,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3640,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890303.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3640_3642delGTCinsATA",
"hgvs_p": "p.Val1214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560362.1",
"strand": false,
"transcript": "ENST00000890303.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1242,
"aa_ref": "V",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 3775,
"cds_end": null,
"cds_length": 3729,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890302.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3637_3639delGTCinsATA",
"hgvs_p": "p.Val1213Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560361.1",
"strand": false,
"transcript": "ENST00000890302.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "V",
"aa_start": 1207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3619,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890304.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3619_3621delGTCinsATA",
"hgvs_p": "p.Val1207Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560363.1",
"strand": false,
"transcript": "ENST00000890304.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "V",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 3727,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890300.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3589_3591delGTCinsATA",
"hgvs_p": "p.Val1197Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560359.1",
"strand": false,
"transcript": "ENST00000890300.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "V",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 3718,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3580,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890299.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3580_3582delGTCinsATA",
"hgvs_p": "p.Val1194Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560358.1",
"strand": false,
"transcript": "ENST00000890299.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "V",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 4054,
"cds_end": null,
"cds_length": 3651,
"cds_start": 3559,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543898.5",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3559_3561delGTCinsATA",
"hgvs_p": "p.Val1187Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444095.1",
"strand": false,
"transcript": "ENST00000543898.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "V",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 3685,
"cds_end": null,
"cds_length": 3639,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890298.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "c.3547_3549delGTCinsATA",
"hgvs_p": "p.Val1183Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560357.1",
"strand": false,
"transcript": "ENST00000890298.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000491360.1",
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"hgvs_c": "n.360_362delGTCinsATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491360.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 40,
"gene_symbol": "ABCB1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
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"transcript": "NM_001348945.2"
}
]
}