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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: 17-57105749-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57105749&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AKAP1",
"hgnc_id": 367,
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_003488.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 97,
"alphamissense_prediction": null,
"alphamissense_score": 0.092,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1324605643749237,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003488.4",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337714.8",
"protein_coding": true,
"protein_id": "NP_003479.1",
"strand": true,
"transcript": "NM_003488.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000337714.8",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003488.4",
"protein_coding": true,
"protein_id": "ENSP00000337736.3",
"strand": true,
"transcript": "ENST00000337714.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 593,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1782,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000314126.4",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314075.3",
"strand": true,
"transcript": "ENST00000314126.4",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 923,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3837,
"cdna_start": 430,
"cds_end": null,
"cds_length": 2772,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964437.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634496.1",
"strand": true,
"transcript": "ENST00000964437.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 914,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2745,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964438.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634497.1",
"strand": true,
"transcript": "ENST00000964438.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 914,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": 430,
"cds_end": null,
"cds_length": 2745,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964441.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634500.1",
"strand": true,
"transcript": "ENST00000964441.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4032,
"cdna_start": 585,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242902.2",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229831.1",
"strand": true,
"transcript": "NM_001242902.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 801,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242903.2",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229832.1",
"strand": true,
"transcript": "NM_001242903.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 551,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370423.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357352.1",
"strand": true,
"transcript": "NM_001370423.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3833,
"cdna_start": 386,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001370424.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357353.1",
"strand": true,
"transcript": "NM_001370424.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 645,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370425.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357354.1",
"strand": true,
"transcript": "NM_001370425.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3927,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001370426.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357355.1",
"strand": true,
"transcript": "NM_001370426.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 903,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 953,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370427.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357356.1",
"strand": true,
"transcript": "NM_001370427.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 495,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000539273.5",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443139.1",
"strand": true,
"transcript": "ENST00000539273.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 627,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000571629.5",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459968.1",
"strand": true,
"transcript": "ENST00000571629.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 425,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000572557.5",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459895.1",
"strand": true,
"transcript": "ENST00000572557.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 840,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000621116.4",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478212.1",
"strand": true,
"transcript": "ENST00000621116.4",
"transcript_support_level": 5
},
{
"aa_alt": "F",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 718,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856869.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526928.1",
"strand": true,
"transcript": "ENST00000856869.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 769,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856870.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526929.1",
"strand": true,
"transcript": "ENST00000856870.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 409,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000856871.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526930.1",
"strand": true,
"transcript": "ENST00000856871.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3932,
"cdna_start": 581,
"cds_end": null,
"cds_length": 2712,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856872.1",
"gene_hgnc_id": 367,
"gene_symbol": "AKAP1",
"hgvs_c": "c.285G>T",
"hgvs_p": "p.Leu95Phe",
"intron_rank": null,
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]
}