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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: 7-87411911-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87411911&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PM5",
"PP2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 5,
"score": 4,
"transcript": "NM_018849.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP2,BP4",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2646,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.39253073930740356,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 3840,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_000443.4",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 3840,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000649586.2",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000265723.8",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 3840,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000359206.8",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4314,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_018849.3",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 3094,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000866031.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866032.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 3223,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000964815.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 3840,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866024.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "R",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3840,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000866035.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"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": "P",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "R",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 3819,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866029.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2885G>C",
"hgvs_p": "p.Arg962Pro",
"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": "P",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "R",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 3756,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000964820.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2801G>C",
"hgvs_p": "p.Arg934Pro",
"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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 2827,
"cds_end": null,
"cds_length": 3735,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000866028.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2801G>C",
"hgvs_p": "p.Arg934Pro",
"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": "P",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "R",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3657,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000866022.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2723G>C",
"hgvs_p": "p.Arg908Pro",
"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": "P",
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"aa_length": 1218,
"aa_ref": "R",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 2875,
"cds_end": null,
"cds_length": 3657,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000964817.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2723G>C",
"hgvs_p": "p.Arg908Pro",
"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": "P",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 2746,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2720,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000866027.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2720G>C",
"hgvs_p": "p.Arg907Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536086.1",
"strand": false,
"transcript": "ENST00000866027.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "R",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3648,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000866021.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2714G>C",
"hgvs_p": "p.Arg905Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536080.1",
"strand": false,
"transcript": "ENST00000866021.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 3044,
"cds_end": null,
"cds_length": 3642,
"cds_start": 2906,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000964818.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Arg969Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634877.1",
"strand": false,
"transcript": "ENST00000964818.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1180,
"aa_ref": "R",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 3543,
"cds_start": 2609,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000866033.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2609G>C",
"hgvs_p": "p.Arg870Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536092.1",
"strand": false,
"transcript": "ENST00000866033.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 3513,
"cds_start": 2579,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000866026.1",
"gene_hgnc_id": 45,
"gene_symbol": "ABCB4",
"hgvs_c": "c.2579G>C",
"hgvs_p": "p.Arg860Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536085.1",
"strand": false,
"transcript": "ENST00000866026.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "R",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 3474,
"cds_start": 2540,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000866023.1",
"gene_hgnc_id": 45,
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