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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: 7-87402097-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87402097&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4"
],
"effects": [
"stop_lost"
],
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"hgvs_c": "c.3860G>C",
"hgvs_p": "p.Ter1287Serext*?",
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_018849.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "ABCB4-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.2800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "*",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 3892,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3839,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_000443.4",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3839G>C",
"hgvs_p": "p.Ter1280Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649586.2",
"protein_coding": true,
"protein_id": "NP_000434.1",
"strand": false,
"transcript": "NM_000443.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "*",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 3892,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3839,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000649586.2",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3839G>C",
"hgvs_p": "p.Ter1280Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000443.4",
"protein_coding": true,
"protein_id": "ENSP00000496956.2",
"strand": false,
"transcript": "ENST00000649586.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "*",
"aa_start": 1287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 3972,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3860,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000265723.8",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3860G>C",
"hgvs_p": "p.Ter1287Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265723.4",
"strand": false,
"transcript": "ENST00000265723.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "*",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 3923,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3839,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000359206.8",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3839G>C",
"hgvs_p": "p.Ter1280Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352135.3",
"strand": false,
"transcript": "ENST00000359206.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "*",
"aa_start": 1287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4314,
"cdna_start": 3913,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3860,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_018849.3",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3860G>C",
"hgvs_p": "p.Ter1287Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061337.1",
"strand": false,
"transcript": "NM_018849.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "*",
"aa_start": 1287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 4048,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3860,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000866031.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3860G>C",
"hgvs_p": "p.Ter1287Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536090.1",
"strand": false,
"transcript": "ENST00000866031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "*",
"aa_start": 1287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 3895,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3860,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000866032.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3860G>C",
"hgvs_p": "p.Ter1287Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536091.1",
"strand": false,
"transcript": "ENST00000866032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "*",
"aa_start": 1287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 4177,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3860,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000964815.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3860G>C",
"hgvs_p": "p.Ter1287Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634874.1",
"strand": false,
"transcript": "ENST00000964815.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "*",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 3874,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3839,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000866024.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3839G>C",
"hgvs_p": "p.Ter1280Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536083.1",
"strand": false,
"transcript": "ENST00000866024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "*",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 4010,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3839,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000866035.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3839G>C",
"hgvs_p": "p.Ter1280Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536094.1",
"strand": false,
"transcript": "ENST00000866035.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "*",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3844,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3818,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000866029.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3818G>C",
"hgvs_p": "p.Ter1273Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536088.1",
"strand": false,
"transcript": "ENST00000866029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "*",
"aa_start": 1252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 3792,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3755,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000964820.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3755G>C",
"hgvs_p": "p.Ter1252Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634879.1",
"strand": false,
"transcript": "ENST00000964820.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "*",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 3760,
"cds_end": null,
"cds_length": 3735,
"cds_start": 3734,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000866028.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3734G>C",
"hgvs_p": "p.Ter1245Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536087.1",
"strand": false,
"transcript": "ENST00000866028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "*",
"aa_start": 1240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 3744,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3719,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000866034.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3719G>C",
"hgvs_p": "p.Ter1240Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536093.1",
"strand": false,
"transcript": "ENST00000866034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "*",
"aa_start": 1240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3719,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000964819.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3719G>C",
"hgvs_p": "p.Ter1240Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634878.1",
"strand": false,
"transcript": "ENST00000964819.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "*",
"aa_start": 1240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 3890,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3719,
"consequences": [
"stop_lost"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000964821.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3719G>C",
"hgvs_p": "p.Ter1240Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634880.1",
"strand": false,
"transcript": "ENST00000964821.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "*",
"aa_start": 1237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": 3939,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3710,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000964816.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3710G>C",
"hgvs_p": "p.Ter1237Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634875.1",
"strand": false,
"transcript": "ENST00000964816.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "*",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 3751,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3698,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_018850.3",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3698G>C",
"hgvs_p": "p.Ter1233Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061338.1",
"strand": false,
"transcript": "NM_018850.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "*",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 3693,
"cds_end": null,
"cds_length": 3657,
"cds_start": 3656,
"consequences": [
"stop_lost"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000866022.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3656G>C",
"hgvs_p": "p.Ter1219Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536081.1",
"strand": false,
"transcript": "ENST00000866022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "*",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 3808,
"cds_end": null,
"cds_length": 3657,
"cds_start": 3656,
"consequences": [
"stop_lost"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000964817.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.3656G>C",
"hgvs_p": "p.Ter1219Serext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634876.1",
"strand": false,
"transcript": "ENST00000964817.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "*",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 3679,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3653,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
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}